Canonical Allele Identifier: CA4650693

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1512292
• ClinVar RCV Id: RCV002022958
• dbSNP Id: rs759821835
• ExAC: 8:17918925 A / G
• gnomAD v2: 8-17918925-A-G
• gnomAD v3: 8-18061416-A-G
• gnomAD v4: 8-18061416-A-G
• MyVariant Identifiers: chr8:g.17918925A>G (hg19) ; chr8:g.18061416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061416A>G , CM000670.2:g.18061416A>G	GRCh38
NC_000008.10:g.17918925A>G , CM000670.1:g.17918925A>G	GRCh37
NC_000008.9:g.17963205A>G	NCBI36
NG_008985.1:g.28583T>C
NG_008985.2:g.28583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.794T>C	ENSP00000371152.4:p.Ile265Thr
ENST00000517409.2:n.714T>C
ENST00000518746.2:n.2432T>C
ENST00000519545.6:n.763T>C
ENST00000520781.6:c.671T>C	ENSP00000427751.1:p.Ile224Thr
ENST00000521542.2:n.54T>C
ENST00000635756.1:c.159T>C
ENST00000635944.1:c.*582T>C	ENSP00000490195.1:n.*582T>C
ENST00000635998.1:c.746T>C	ENSP00000490506.1:p.Ile249Thr
ENST00000636009.1:c.603T>C	ENSP00000489988.1:n.603T>C
ENST00000636033.1:c.*582T>C	ENSP00000489617.1:n.*582T>C
ENST00000636050.1:c.*589T>C	ENSP00000490562.1:n.*589T>C
ENST00000636128.1:c.425T>C	ENSP00000489789.1:p.Ile142Thr
ENST00000636160.1:c.*638T>C	ENSP00000489651.1:n.*638T>C
ENST00000636171.1:c.689T>C	ENSP00000489761.1:p.Ile230Thr
ENST00000636455.1:c.794T>C	ENSP00000490502.1:p.Ile265Thr
ENST00000636494.1:c.*526T>C	ENSP00000490388.1:n.*526T>C
ENST00000636563.1:n.408T>C
ENST00000636577.1:c.686T>C	ENSP00000490027.1:p.Ile229Thr
ENST00000636691.1:c.551T>C	ENSP00000490725.1:p.Ile184Thr
ENST00000636701.1:c.*397T>C	ENSP00000489800.1:n.*397T>C
ENST00000636815.1:c.663T>C
ENST00000636920.1:c.*582T>C	ENSP00000490437.1:n.*582T>C
ENST00000636997.1:c.659T>C	ENSP00000490093.1:p.Ile220Thr
ENST00000637013.1:c.*1114T>C	ENSP00000490596.1:n.*1114T>C
ENST00000637014.1:n.1153T>C
ENST00000637095.1:c.*526T>C	ENSP00000490415.1:n.*526T>C
ENST00000637244.1:c.*1264T>C	ENSP00000490188.1:n.*1264T>C
ENST00000637343.1:n.2183T>C
ENST00000637429.1:c.*958T>C	ENSP00000490522.1:n.*958T>C
ENST00000637484.1:c.*708T>C	ENSP00000490837.1:n.*708T>C
ENST00000637528.1:c.683T>C	ENSP00000490801.1:p.Ile228Thr
ENST00000637609.1:n.3467T>C
ENST00000637636.1:c.740T>C	ENSP00000490112.1:p.Ile247Thr
ENST00000637790.2:c.746T>C MANE Select	ENSP00000490272.1:p.Ile249Thr
ENST00000637857.1:n.1112T>C
ENST00000637922.1:c.551T>C	ENSP00000490071.1:p.Ile184Thr
ENST00000637991.1:c.719T>C	ENSP00000489901.1:p.Ile240Thr
ENST00000638028.1:n.963T>C
ENST00000638069.1:n.1567T>C
ENST00000262097.10:c.746T>C	ENSP00000262097.6:p.Ile249Thr
ENST00000314146.10:c.728T>C	ENSP00000326970.10:p.Ile243Thr
ENST00000381733.8:c.794T>C	ENSP00000371152.4:p.Ile265Thr
ENST00000518746.1:n.563T>C
ENST00000519468.5:n.575T>C
ENST00000520781.5:c.671T>C	ENSP00000427751.1:p.Ile224Thr
ENST00000521542.1:n.459T>C
NM_001127505.1:c.728T>C	NP_001120977.1:p.Ile243Thr
NM_001127505.2:c.728T>C	NP_001120977.1:p.Ile243Thr
NM_004315.4:c.794T>C	NP_004306.3:p.Ile265Thr
NM_004315.5:c.794T>C	NP_004306.3:p.Ile265Thr
NM_177924.3:c.746T>C	NP_808592.2:p.Ile249Thr
NM_177924.4:c.746T>C	NP_808592.2:p.Ile249Thr
XM_005273504.2:c.680T>C	XP_005273561.1:p.Ile227Thr
NM_001363743.1:c.551T>C	NP_001350672.1:p.Ile184Thr
XM_005273504.3:c.680T>C	XP_005273561.1:p.Ile227Thr
NM_177924.5:c.746T>C MANE Select	NP_808592.2:p.Ile249Thr
NM_001127505.3:c.728T>C	NP_001120977.1:p.Ile243Thr
NM_001363743.2:c.551T>C	NP_001350672.1:p.Ile184Thr
NM_004315.6:c.794T>C	NP_004306.3:p.Ile265Thr