Canonical Allele Identifier: CA370431814

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922030A>C (hg19) ; chr8:g.18064521A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064521A>C , CM000670.2:g.18064521A>C	GRCh38
NC_000008.10:g.17922030A>C , CM000670.1:g.17922030A>C	GRCh37
NC_000008.9:g.17966310A>C	NCBI36
NG_008985.1:g.25478T>G
NG_008985.2:g.25478T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.441T>G	ENSP00000371152.4:p.Ile147Met
ENST00000519545.6:n.410T>G
ENST00000520781.6:c.383-1291T>G	ENSP00000427751.1:n.383-1291T>G
ENST00000523593.6:c.*236T>G	ENSP00000490700.1:n.*236T>G
ENST00000523744.2:n.4151T>G
ENST00000635769.1:c.414T>G	ENSP00000490485.1:p.Ile138Met
ENST00000635944.1:c.*229T>G	ENSP00000490195.1:n.*229T>G
ENST00000635998.1:c.393T>G	ENSP00000490506.1:p.Ile131Met
ENST00000636009.1:c.315-1291T>G	ENSP00000489988.1:n.315-1291T>G
ENST00000636033.1:c.*229T>G	ENSP00000489617.1:n.*229T>G
ENST00000636050.1:c.*236T>G	ENSP00000490562.1:n.*236T>G
ENST00000636128.1:c.382+2699T>G	ENSP00000489789.1:n.382+2699T>G
ENST00000636160.1:c.*285T>G	ENSP00000489651.1:n.*285T>G
ENST00000636171.1:c.383-47T>G	ENSP00000489761.1:n.383-47T>G
ENST00000636299.1:c.*164T>G	ENSP00000490202.1:n.*164T>G
ENST00000636435.1:n.3165T>G
ENST00000636455.1:c.441T>G	ENSP00000490502.1:p.Ile147Met
ENST00000636494.1:c.*173T>G	ENSP00000490388.1:n.*173T>G
ENST00000636563.1:n.55T>G
ENST00000636577.1:c.383-50T>G	ENSP00000490027.1:n.383-50T>G
ENST00000636691.1:c.198T>G	ENSP00000490725.1:p.Ile66Met
ENST00000636701.1:c.*44T>G	ENSP00000489800.1:n.*44T>G
ENST00000636815.1:c.310T>G
ENST00000636823.1:c.198T>G	ENSP00000490798.1:p.Ile66Met
ENST00000636828.1:n.3257T>G
ENST00000636920.1:c.*229T>G	ENSP00000490437.1:n.*229T>G
ENST00000636997.1:c.306T>G	ENSP00000490093.1:p.Ile102Met
ENST00000637013.1:c.*605T>G	ENSP00000490596.1:n.*605T>G
ENST00000637095.1:c.*173T>G	ENSP00000490415.1:n.*173T>G
ENST00000637244.1:c.*911T>G	ENSP00000490188.1:n.*911T>G
ENST00000637343.1:n.604T>G
ENST00000637429.1:c.*605T>G	ENSP00000490522.1:n.*605T>G
ENST00000637484.1:c.*420-1291T>G	ENSP00000490837.1:n.*420-1291T>G
ENST00000637528.1:c.383-53T>G	ENSP00000490801.1:n.383-53T>G
ENST00000637603.1:c.363T>G	ENSP00000489979.1:p.Ile121Met
ENST00000637609.1:n.3114T>G
ENST00000637636.1:c.387T>G	ENSP00000490112.1:p.Ile129Met
ENST00000637638.1:c.393T>G	ENSP00000490774.1:p.Ile131Met
ENST00000637718.1:c.198T>G	ENSP00000490133.1:p.Ile66Met
ENST00000637790.2:c.393T>G MANE Select	ENSP00000490272.1:p.Ile131Met
ENST00000637857.1:n.105-2098T>G
ENST00000637922.1:c.198T>G	ENSP00000490071.1:p.Ile66Met
ENST00000637991.1:c.431-1291T>G	ENSP00000489901.1:n.431-1291T>G
ENST00000638069.1:n.449T>G
ENST00000262097.10:c.393T>G	ENSP00000262097.6:p.Ile131Met
ENST00000314146.10:c.375T>G	ENSP00000326970.10:p.Ile125Met
ENST00000381733.8:c.441T>G	ENSP00000371152.4:p.Ile147Met
ENST00000519468.5:n.389-2154T>G
ENST00000519545.5:n.407T>G
ENST00000520781.5:c.383-1291T>G	ENSP00000427751.1:n.383-1291T>G
ENST00000523593.5:n.246T>G
ENST00000523744.1:n.396T>G
NM_001127505.1:c.375T>G	NP_001120977.1:p.Ile125Met
NM_001127505.2:c.375T>G	NP_001120977.1:p.Ile125Met
NM_004315.4:c.441T>G	NP_004306.3:p.Ile147Met
NM_004315.5:c.441T>G	NP_004306.3:p.Ile147Met
NM_177924.3:c.393T>G	NP_808592.2:p.Ile131Met
NM_177924.4:c.393T>G	NP_808592.2:p.Ile131Met
XM_005273504.2:c.327T>G	XP_005273561.1:p.Ile109Met
NM_001363743.1:c.198T>G	NP_001350672.1:p.Ile66Met
XM_005273504.3:c.327T>G	XP_005273561.1:p.Ile109Met
NM_177924.5:c.393T>G MANE Select	NP_808592.2:p.Ile131Met
NM_001127505.3:c.375T>G	NP_001120977.1:p.Ile125Met
NM_001363743.2:c.198T>G	NP_001350672.1:p.Ile66Met
NM_004315.6:c.441T>G	NP_004306.3:p.Ile147Met