Canonical Allele Identifier: CA459662189

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061394-A-G
• MyVariant Identifiers: chr8:g.17918903A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061394A>G , CM000670.2:g.18061394A>G	GRCh38
NC_000008.10:g.17918903A>G , CM000670.1:g.17918903A>G	GRCh37
NC_000008.9:g.17963183A>G	NCBI36
NG_008985.1:g.28605T>C
NG_008985.2:g.28605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.816T>C	ENSP00000371152.4:p.Val272=
ENST00000517409.2:n.736T>C
ENST00000518746.2:n.2454T>C
ENST00000520781.6:c.693T>C	ENSP00000427751.1:p.Val231=
ENST00000521542.2:n.76T>C
ENST00000635756.1:c.181T>C
ENST00000635944.1:c.*604T>C	ENSP00000490195.1:n.*604T>C
ENST00000635998.1:c.768T>C	ENSP00000490506.1:p.Val256=
ENST00000636009.1:c.625T>C	ENSP00000489988.1:n.625T>C
ENST00000636033.1:c.*604T>C	ENSP00000489617.1:n.*604T>C
ENST00000636050.1:c.*611T>C	ENSP00000490562.1:n.*611T>C
ENST00000636128.1:c.447T>C	ENSP00000489789.1:p.Val149=
ENST00000636160.1:c.*660T>C	ENSP00000489651.1:n.*660T>C
ENST00000636171.1:c.711T>C	ENSP00000489761.1:p.Val237=
ENST00000636455.1:c.816T>C	ENSP00000490502.1:p.Val272=
ENST00000636494.1:c.*548T>C	ENSP00000490388.1:n.*548T>C
ENST00000636563.1:n.430T>C
ENST00000636577.1:c.708T>C	ENSP00000490027.1:p.Val236=
ENST00000636691.1:c.573T>C	ENSP00000490725.1:p.Val191=
ENST00000636701.1:c.*419T>C	ENSP00000489800.1:n.*419T>C
ENST00000636815.1:c.685T>C
ENST00000636920.1:c.*604T>C	ENSP00000490437.1:n.*604T>C
ENST00000636997.1:c.681T>C	ENSP00000490093.1:p.Val227=
ENST00000637013.1:c.*1136T>C	ENSP00000490596.1:n.*1136T>C
ENST00000637014.1:n.1175T>C
ENST00000637095.1:c.*548T>C	ENSP00000490415.1:n.*548T>C
ENST00000637244.1:c.*1286T>C	ENSP00000490188.1:n.*1286T>C
ENST00000637343.1:n.2205T>C
ENST00000637429.1:c.*980T>C	ENSP00000490522.1:n.*980T>C
ENST00000637484.1:c.*730T>C	ENSP00000490837.1:n.*730T>C
ENST00000637528.1:c.705T>C	ENSP00000490801.1:p.Val235=
ENST00000637609.1:n.3489T>C
ENST00000637636.1:c.762T>C	ENSP00000490112.1:p.Val254=
ENST00000637790.2:c.768T>C MANE Select	ENSP00000490272.1:p.Val256=
ENST00000637857.1:n.1134T>C
ENST00000637922.1:c.573T>C	ENSP00000490071.1:p.Val191=
ENST00000637991.1:c.741T>C	ENSP00000489901.1:p.Val247=
ENST00000638028.1:n.985T>C
ENST00000638069.1:n.1589T>C
ENST00000262097.10:c.768T>C	ENSP00000262097.6:p.Val256=
ENST00000314146.10:c.750T>C	ENSP00000326970.10:p.Val250=
ENST00000381733.8:c.816T>C	ENSP00000371152.4:p.Val272=
ENST00000519468.5:n.597T>C
ENST00000520781.5:c.693T>C	ENSP00000427751.1:p.Val231=
ENST00000521542.1:n.481T>C
NM_001127505.1:c.750T>C	NP_001120977.1:p.Val250=
NM_001127505.2:c.750T>C	NP_001120977.1:p.Val250=
NM_004315.4:c.816T>C	NP_004306.3:p.Val272=
NM_004315.5:c.816T>C	NP_004306.3:p.Val272=
NM_177924.3:c.768T>C	NP_808592.2:p.Val256=
NM_177924.4:c.768T>C	NP_808592.2:p.Val256=
XM_005273504.2:c.702T>C	XP_005273561.1:p.Val234=
NM_001363743.1:c.573T>C	NP_001350672.1:p.Val191=
XM_005273504.3:c.702T>C	XP_005273561.1:p.Val234=
NM_177924.5:c.768T>C MANE Select	NP_808592.2:p.Val256=
NM_001127505.3:c.750T>C	NP_001120977.1:p.Val250=
NM_001363743.2:c.573T>C	NP_001350672.1:p.Val191=
NM_004315.6:c.816T>C	NP_004306.3:p.Val272=