Canonical Allele Identifier: CA370431810

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922029A>G (hg19) ; chr8:g.18064520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064520A>G , CM000670.2:g.18064520A>G	GRCh38
NC_000008.10:g.17922029A>G , CM000670.1:g.17922029A>G	GRCh37
NC_000008.9:g.17966309A>G	NCBI36
NG_008985.1:g.25479T>C
NG_008985.2:g.25479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.442T>C	ENSP00000371152.4:p.Ser148Pro
ENST00000519545.6:n.411T>C
ENST00000520781.6:c.383-1290T>C	ENSP00000427751.1:n.383-1290T>C
ENST00000523593.6:c.*237T>C	ENSP00000490700.1:n.*237T>C
ENST00000523744.2:n.4152T>C
ENST00000635769.1:c.415T>C	ENSP00000490485.1:p.Ser139Pro
ENST00000635944.1:c.*230T>C	ENSP00000490195.1:n.*230T>C
ENST00000635998.1:c.394T>C	ENSP00000490506.1:p.Ser132Pro
ENST00000636009.1:c.315-1290T>C	ENSP00000489988.1:n.315-1290T>C
ENST00000636033.1:c.*230T>C	ENSP00000489617.1:n.*230T>C
ENST00000636050.1:c.*237T>C	ENSP00000490562.1:n.*237T>C
ENST00000636128.1:c.382+2700T>C	ENSP00000489789.1:n.382+2700T>C
ENST00000636160.1:c.*286T>C	ENSP00000489651.1:n.*286T>C
ENST00000636171.1:c.383-46T>C	ENSP00000489761.1:n.383-46T>C
ENST00000636299.1:c.*165T>C	ENSP00000490202.1:n.*165T>C
ENST00000636435.1:n.3166T>C
ENST00000636455.1:c.442T>C	ENSP00000490502.1:p.Ser148Pro
ENST00000636494.1:c.*174T>C	ENSP00000490388.1:n.*174T>C
ENST00000636563.1:n.56T>C
ENST00000636577.1:c.383-49T>C	ENSP00000490027.1:n.383-49T>C
ENST00000636691.1:c.199T>C	ENSP00000490725.1:p.Ser67Pro
ENST00000636701.1:c.*45T>C	ENSP00000489800.1:n.*45T>C
ENST00000636815.1:c.311T>C
ENST00000636823.1:c.199T>C	ENSP00000490798.1:p.Ser67Pro
ENST00000636828.1:n.3258T>C
ENST00000636920.1:c.*230T>C	ENSP00000490437.1:n.*230T>C
ENST00000636997.1:c.307T>C	ENSP00000490093.1:p.Ser103Pro
ENST00000637013.1:c.*606T>C	ENSP00000490596.1:n.*606T>C
ENST00000637095.1:c.*174T>C	ENSP00000490415.1:n.*174T>C
ENST00000637244.1:c.*912T>C	ENSP00000490188.1:n.*912T>C
ENST00000637343.1:n.605T>C
ENST00000637429.1:c.*606T>C	ENSP00000490522.1:n.*606T>C
ENST00000637484.1:c.*420-1290T>C	ENSP00000490837.1:n.*420-1290T>C
ENST00000637528.1:c.383-52T>C	ENSP00000490801.1:n.383-52T>C
ENST00000637603.1:c.364T>C	ENSP00000489979.1:p.Ser122Pro
ENST00000637609.1:n.3115T>C
ENST00000637636.1:c.388T>C	ENSP00000490112.1:p.Ser130Pro
ENST00000637638.1:c.394T>C	ENSP00000490774.1:p.Ser132Pro
ENST00000637718.1:c.199T>C	ENSP00000490133.1:p.Ser67Pro
ENST00000637790.2:c.394T>C MANE Select	ENSP00000490272.1:p.Ser132Pro
ENST00000637857.1:n.105-2097T>C
ENST00000637922.1:c.199T>C	ENSP00000490071.1:p.Ser67Pro
ENST00000637991.1:c.431-1290T>C	ENSP00000489901.1:n.431-1290T>C
ENST00000638069.1:n.450T>C
ENST00000262097.10:c.394T>C	ENSP00000262097.6:p.Ser132Pro
ENST00000314146.10:c.376T>C	ENSP00000326970.10:p.Ser126Pro
ENST00000381733.8:c.442T>C	ENSP00000371152.4:p.Ser148Pro
ENST00000519468.5:n.389-2153T>C
ENST00000519545.5:n.408T>C
ENST00000520781.5:c.383-1290T>C	ENSP00000427751.1:n.383-1290T>C
ENST00000523593.5:n.247T>C
ENST00000523744.1:n.397T>C
NM_001127505.1:c.376T>C	NP_001120977.1:p.Ser126Pro
NM_001127505.2:c.376T>C	NP_001120977.1:p.Ser126Pro
NM_004315.4:c.442T>C	NP_004306.3:p.Ser148Pro
NM_004315.5:c.442T>C	NP_004306.3:p.Ser148Pro
NM_177924.3:c.394T>C	NP_808592.2:p.Ser132Pro
NM_177924.4:c.394T>C	NP_808592.2:p.Ser132Pro
XM_005273504.2:c.328T>C	XP_005273561.1:p.Ser110Pro
NM_001363743.1:c.199T>C	NP_001350672.1:p.Ser67Pro
XM_005273504.3:c.328T>C	XP_005273561.1:p.Ser110Pro
NM_177924.5:c.394T>C MANE Select	NP_808592.2:p.Ser132Pro
NM_001127505.3:c.376T>C	NP_001120977.1:p.Ser126Pro
NM_001363743.2:c.199T>C	NP_001350672.1:p.Ser67Pro
NM_004315.6:c.442T>C	NP_004306.3:p.Ser148Pro