Canonical Allele Identifier: CA370429349

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 2141244
• ClinVar RCV Id: RCV003056858
• MyVariant Identifiers: chr8:g.17918920A>G (hg19) ; chr8:g.18061411A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061411A>G , CM000670.2:g.18061411A>G	GRCh38
NC_000008.10:g.17918920A>G , CM000670.1:g.17918920A>G	GRCh37
NC_000008.9:g.17963200A>G	NCBI36
NG_008985.1:g.28588T>C
NG_008985.2:g.28588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.799T>C	ENSP00000371152.4:p.Phe267Leu
ENST00000517409.2:n.719T>C
ENST00000518746.2:n.2437T>C
ENST00000519545.6:n.768T>C
ENST00000520781.6:c.676T>C	ENSP00000427751.1:p.Phe226Leu
ENST00000521542.2:n.59T>C
ENST00000635756.1:c.164T>C
ENST00000635944.1:c.*587T>C	ENSP00000490195.1:n.*587T>C
ENST00000635998.1:c.751T>C	ENSP00000490506.1:p.Phe251Leu
ENST00000636009.1:c.608T>C	ENSP00000489988.1:n.608T>C
ENST00000636033.1:c.*587T>C	ENSP00000489617.1:n.*587T>C
ENST00000636050.1:c.*594T>C	ENSP00000490562.1:n.*594T>C
ENST00000636128.1:c.430T>C	ENSP00000489789.1:p.Phe144Leu
ENST00000636160.1:c.*643T>C	ENSP00000489651.1:n.*643T>C
ENST00000636171.1:c.694T>C	ENSP00000489761.1:p.Phe232Leu
ENST00000636455.1:c.799T>C	ENSP00000490502.1:p.Phe267Leu
ENST00000636494.1:c.*531T>C	ENSP00000490388.1:n.*531T>C
ENST00000636563.1:n.413T>C
ENST00000636577.1:c.691T>C	ENSP00000490027.1:p.Phe231Leu
ENST00000636691.1:c.556T>C	ENSP00000490725.1:p.Phe186Leu
ENST00000636701.1:c.*402T>C	ENSP00000489800.1:n.*402T>C
ENST00000636815.1:c.668T>C
ENST00000636920.1:c.*587T>C	ENSP00000490437.1:n.*587T>C
ENST00000636997.1:c.664T>C	ENSP00000490093.1:p.Phe222Leu
ENST00000637013.1:c.*1119T>C	ENSP00000490596.1:n.*1119T>C
ENST00000637014.1:n.1158T>C
ENST00000637095.1:c.*531T>C	ENSP00000490415.1:n.*531T>C
ENST00000637244.1:c.*1269T>C	ENSP00000490188.1:n.*1269T>C
ENST00000637343.1:n.2188T>C
ENST00000637429.1:c.*963T>C	ENSP00000490522.1:n.*963T>C
ENST00000637484.1:c.*713T>C	ENSP00000490837.1:n.*713T>C
ENST00000637528.1:c.688T>C	ENSP00000490801.1:p.Phe230Leu
ENST00000637609.1:n.3472T>C
ENST00000637636.1:c.745T>C	ENSP00000490112.1:p.Phe249Leu
ENST00000637790.2:c.751T>C MANE Select	ENSP00000490272.1:p.Phe251Leu
ENST00000637857.1:n.1117T>C
ENST00000637922.1:c.556T>C	ENSP00000490071.1:p.Phe186Leu
ENST00000637991.1:c.724T>C	ENSP00000489901.1:p.Phe242Leu
ENST00000638028.1:n.968T>C
ENST00000638069.1:n.1572T>C
ENST00000262097.10:c.751T>C	ENSP00000262097.6:p.Phe251Leu
ENST00000314146.10:c.733T>C	ENSP00000326970.10:p.Phe245Leu
ENST00000381733.8:c.799T>C	ENSP00000371152.4:p.Phe267Leu
ENST00000518746.1:n.568T>C
ENST00000519468.5:n.580T>C
ENST00000520781.5:c.676T>C	ENSP00000427751.1:p.Phe226Leu
ENST00000521542.1:n.464T>C
NM_001127505.1:c.733T>C	NP_001120977.1:p.Phe245Leu
NM_001127505.2:c.733T>C	NP_001120977.1:p.Phe245Leu
NM_004315.4:c.799T>C	NP_004306.3:p.Phe267Leu
NM_004315.5:c.799T>C	NP_004306.3:p.Phe267Leu
NM_177924.3:c.751T>C	NP_808592.2:p.Phe251Leu
NM_177924.4:c.751T>C	NP_808592.2:p.Phe251Leu
XM_005273504.2:c.685T>C	XP_005273561.1:p.Phe229Leu
NM_001363743.1:c.556T>C	NP_001350672.1:p.Phe186Leu
XM_005273504.3:c.685T>C	XP_005273561.1:p.Phe229Leu
NM_177924.5:c.751T>C MANE Select	NP_808592.2:p.Phe251Leu
NM_001127505.3:c.733T>C	NP_001120977.1:p.Phe245Leu
NM_001363743.2:c.556T>C	NP_001350672.1:p.Phe186Leu
NM_004315.6:c.799T>C	NP_004306.3:p.Phe267Leu