Canonical Allele Identifier: CA370429293

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918904A>G (hg19) ; chr8:g.18061395A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061395A>G , CM000670.2:g.18061395A>G	GRCh38
NC_000008.10:g.17918904A>G , CM000670.1:g.17918904A>G	GRCh37
NC_000008.9:g.17963184A>G	NCBI36
NG_008985.1:g.28604T>C
NG_008985.2:g.28604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.815T>C	ENSP00000371152.4:p.Val272Ala
ENST00000517409.2:n.735T>C
ENST00000518746.2:n.2453T>C
ENST00000520781.6:c.692T>C	ENSP00000427751.1:p.Val231Ala
ENST00000521542.2:n.75T>C
ENST00000635756.1:c.180T>C
ENST00000635944.1:c.*603T>C	ENSP00000490195.1:n.*603T>C
ENST00000635998.1:c.767T>C	ENSP00000490506.1:p.Val256Ala
ENST00000636009.1:c.624T>C	ENSP00000489988.1:n.624T>C
ENST00000636033.1:c.*603T>C	ENSP00000489617.1:n.*603T>C
ENST00000636050.1:c.*610T>C	ENSP00000490562.1:n.*610T>C
ENST00000636128.1:c.446T>C	ENSP00000489789.1:p.Val149Ala
ENST00000636160.1:c.*659T>C	ENSP00000489651.1:n.*659T>C
ENST00000636171.1:c.710T>C	ENSP00000489761.1:p.Val237Ala
ENST00000636455.1:c.815T>C	ENSP00000490502.1:p.Val272Ala
ENST00000636494.1:c.*547T>C	ENSP00000490388.1:n.*547T>C
ENST00000636563.1:n.429T>C
ENST00000636577.1:c.707T>C	ENSP00000490027.1:p.Val236Ala
ENST00000636691.1:c.572T>C	ENSP00000490725.1:p.Val191Ala
ENST00000636701.1:c.*418T>C	ENSP00000489800.1:n.*418T>C
ENST00000636815.1:c.684T>C
ENST00000636920.1:c.*603T>C	ENSP00000490437.1:n.*603T>C
ENST00000636997.1:c.680T>C	ENSP00000490093.1:p.Val227Ala
ENST00000637013.1:c.*1135T>C	ENSP00000490596.1:n.*1135T>C
ENST00000637014.1:n.1174T>C
ENST00000637095.1:c.*547T>C	ENSP00000490415.1:n.*547T>C
ENST00000637244.1:c.*1285T>C	ENSP00000490188.1:n.*1285T>C
ENST00000637343.1:n.2204T>C
ENST00000637429.1:c.*979T>C	ENSP00000490522.1:n.*979T>C
ENST00000637484.1:c.*729T>C	ENSP00000490837.1:n.*729T>C
ENST00000637528.1:c.704T>C	ENSP00000490801.1:p.Val235Ala
ENST00000637609.1:n.3488T>C
ENST00000637636.1:c.761T>C	ENSP00000490112.1:p.Val254Ala
ENST00000637790.2:c.767T>C MANE Select	ENSP00000490272.1:p.Val256Ala
ENST00000637857.1:n.1133T>C
ENST00000637922.1:c.572T>C	ENSP00000490071.1:p.Val191Ala
ENST00000637991.1:c.740T>C	ENSP00000489901.1:p.Val247Ala
ENST00000638028.1:n.984T>C
ENST00000638069.1:n.1588T>C
ENST00000262097.10:c.767T>C	ENSP00000262097.6:p.Val256Ala
ENST00000314146.10:c.749T>C	ENSP00000326970.10:p.Val250Ala
ENST00000381733.8:c.815T>C	ENSP00000371152.4:p.Val272Ala
ENST00000519468.5:n.596T>C
ENST00000520781.5:c.692T>C	ENSP00000427751.1:p.Val231Ala
ENST00000521542.1:n.480T>C
NM_001127505.1:c.749T>C	NP_001120977.1:p.Val250Ala
NM_001127505.2:c.749T>C	NP_001120977.1:p.Val250Ala
NM_004315.4:c.815T>C	NP_004306.3:p.Val272Ala
NM_004315.5:c.815T>C	NP_004306.3:p.Val272Ala
NM_177924.3:c.767T>C	NP_808592.2:p.Val256Ala
NM_177924.4:c.767T>C	NP_808592.2:p.Val256Ala
XM_005273504.2:c.701T>C	XP_005273561.1:p.Val234Ala
NM_001363743.1:c.572T>C	NP_001350672.1:p.Val191Ala
XM_005273504.3:c.701T>C	XP_005273561.1:p.Val234Ala
NM_177924.5:c.767T>C MANE Select	NP_808592.2:p.Val256Ala
NM_001127505.3:c.749T>C	NP_001120977.1:p.Val250Ala
NM_001363743.2:c.572T>C	NP_001350672.1:p.Val191Ala
NM_004315.6:c.815T>C	NP_004306.3:p.Val272Ala