Canonical Allele Identifier: CA370432878
Community Standard Title: NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18067288A>G , CM000670.2:g.18067288A>G GRCh38
NC_000008.10:g.17924797A>G , CM000670.1:g.17924797A>G GRCh37
NC_000008.9:g.17969077A>G NCBI36
NG_008985.1:g.22711T>C
NG_008985.2:g.22711T>C

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.314T>C MANE Select NP_808592.2:p.Leu105Pro
ENST00000637790.2:c.314T>C MANE Select ENSP00000490272.1:p.Leu105Pro
NM_001127505.1:c.296T>C NP_001120977.1:p.Leu99Pro
NM_001127505.2:c.296T>C NP_001120977.1:p.Leu99Pro
NM_001127505.3:c.296T>C NP_001120977.1:p.Leu99Pro
NM_001363743.1:c.119T>C NP_001350672.1:p.Leu40Pro
NM_001363743.2:c.119T>C NP_001350672.1:p.Leu40Pro
NM_004315.4:c.362T>C NP_004306.3:p.Leu121Pro
NM_004315.5:c.362T>C NP_004306.3:p.Leu121Pro
NM_004315.6:c.362T>C NP_004306.3:p.Leu121Pro
NM_177924.3:c.314T>C NP_808592.2:p.Leu105Pro
NM_177924.4:c.314T>C NP_808592.2:p.Leu105Pro
ENST00000262097.10:c.314T>C ENSP00000262097.6:p.Leu105Pro
ENST00000314146.10:c.296T>C ENSP00000326970.10:p.Leu99Pro
ENST00000381733.8:c.362T>C ENSP00000371152.4:p.Leu121Pro
ENST00000381733.9:c.362T>C ENSP00000371152.4:p.Leu121Pro
ENST00000518087.6:n.362T>C
ENST00000518087.7:c.*150T>C ENSP00000490753.1:n.*150T>C
ENST00000519468.5:n.320T>C
ENST00000519545.5:n.328T>C
ENST00000519545.6:n.331T>C
ENST00000520781.5:c.314T>C ENSP00000427751.1:p.Leu105Pro
ENST00000520781.6:c.314T>C ENSP00000427751.1:p.Leu105Pro
ENST00000523593.5:n.167T>C
ENST00000523593.6:c.*157T>C ENSP00000490700.1:n.*157T>C
ENST00000523744.2:n.1384T>C
ENST00000635769.1:c.335T>C ENSP00000490485.1:p.Leu112Pro
ENST00000635944.1:c.*150T>C ENSP00000490195.1:n.*150T>C
ENST00000635998.1:c.314T>C ENSP00000490506.1:p.Leu105Pro
ENST00000636009.1:c.246T>C ENSP00000489988.1:n.246T>C
ENST00000636033.1:c.*150T>C ENSP00000489617.1:n.*150T>C
ENST00000636050.1:c.*157T>C ENSP00000490562.1:n.*157T>C
ENST00000636128.1:c.314T>C ENSP00000489789.1:p.Leu105Pro
ENST00000636160.1:c.*206T>C ENSP00000489651.1:n.*206T>C
ENST00000636171.1:c.314T>C ENSP00000489761.1:p.Leu105Pro
ENST00000636269.1:c.119T>C ENSP00000490738.1:p.Leu40Pro
ENST00000636299.1:c.*85T>C ENSP00000490202.1:n.*85T>C
ENST00000636435.1:n.398T>C
ENST00000636455.1:c.362T>C ENSP00000490502.1:p.Leu121Pro
ENST00000636494.1:c.*94T>C ENSP00000490388.1:n.*94T>C
ENST00000636537.1:c.362T>C ENSP00000489914.1:p.Leu121Pro
ENST00000636577.1:c.314T>C ENSP00000490027.1:p.Leu105Pro
ENST00000636691.1:c.119T>C ENSP00000490725.1:p.Leu40Pro
ENST00000636701.1:c.136T>C ENSP00000489800.1:p.Leu46=
ENST00000636715.1:c.*94T>C ENSP00000490876.1:n.*94T>C
ENST00000636815.1:c.231T>C
ENST00000636823.1:c.119T>C ENSP00000490798.1:p.Leu40Pro
ENST00000636828.1:n.490T>C
ENST00000636920.1:c.*150T>C ENSP00000490437.1:n.*150T>C
ENST00000636997.1:c.227T>C ENSP00000490093.1:p.Leu76Pro
ENST00000637013.1:c.*526T>C ENSP00000490596.1:n.*526T>C
ENST00000637095.1:c.*94T>C ENSP00000490415.1:n.*94T>C
ENST00000637202.1:c.*94T>C ENSP00000490129.1:n.*94T>C
ENST00000637244.1:c.*832T>C ENSP00000490188.1:n.*832T>C
ENST00000637429.1:c.*526T>C ENSP00000490522.1:n.*526T>C
ENST00000637484.1:c.*351T>C ENSP00000490837.1:n.*351T>C
ENST00000637528.1:c.314T>C ENSP00000490801.1:p.Leu105Pro
ENST00000637561.1:c.314T>C ENSP00000490536.1:p.Leu105Pro
ENST00000637603.1:c.314T>C ENSP00000489979.1:p.Leu105Pro
ENST00000637609.1:n.347T>C
ENST00000637636.1:c.308T>C ENSP00000490112.1:p.Leu103Pro
ENST00000637638.1:c.314T>C ENSP00000490774.1:p.Leu105Pro
ENST00000637718.1:c.119T>C ENSP00000490133.1:p.Leu40Pro
ENST00000637792.1:c.356T>C ENSP00000490423.1:p.Leu119Pro
ENST00000637805.1:c.*150T>C ENSP00000489884.1:n.*150T>C
ENST00000637857.1:n.36T>C
ENST00000637872.1:c.119T>C ENSP00000490432.1:p.Leu40Pro
ENST00000637922.1:c.119T>C ENSP00000490071.1:p.Leu40Pro
ENST00000637991.1:c.362T>C ENSP00000489901.1:p.Leu121Pro
ENST00000638069.1:n.370T>C
XM_005273504.2:c.248T>C XP_005273561.1:p.Leu83Pro
XM_005273504.3:c.248T>C XP_005273561.1:p.Leu83Pro