Canonical Allele Identifier: CA370429291

Gene: ASAH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.815T>G	ENSP00000371152.4:p.Val272Gly
ENST00000517409.2:n.735T>G
ENST00000518746.2:n.2453T>G
ENST00000520781.6:c.692T>G	ENSP00000427751.1:p.Val231Gly
ENST00000521542.2:n.75T>G
ENST00000635756.1:c.180T>G
ENST00000635944.1:c.*603T>G	ENSP00000490195.1:n.*603T>G
ENST00000635998.1:c.767T>G	ENSP00000490506.1:p.Val256Gly
ENST00000636009.1:c.624T>G	ENSP00000489988.1:n.624T>G
ENST00000636033.1:c.*603T>G	ENSP00000489617.1:n.*603T>G
ENST00000636050.1:c.*610T>G	ENSP00000490562.1:n.*610T>G
ENST00000636128.1:c.446T>G	ENSP00000489789.1:p.Val149Gly
ENST00000636160.1:c.*659T>G	ENSP00000489651.1:n.*659T>G
ENST00000636171.1:c.710T>G	ENSP00000489761.1:p.Val237Gly
ENST00000636455.1:c.815T>G	ENSP00000490502.1:p.Val272Gly
ENST00000636494.1:c.*547T>G	ENSP00000490388.1:n.*547T>G
ENST00000636563.1:n.429T>G
ENST00000636577.1:c.707T>G	ENSP00000490027.1:p.Val236Gly
ENST00000636691.1:c.572T>G	ENSP00000490725.1:p.Val191Gly
ENST00000636701.1:c.*418T>G	ENSP00000489800.1:n.*418T>G
ENST00000636815.1:c.684T>G
ENST00000636920.1:c.*603T>G	ENSP00000490437.1:n.*603T>G
ENST00000636997.1:c.680T>G	ENSP00000490093.1:p.Val227Gly
ENST00000637013.1:c.*1135T>G	ENSP00000490596.1:n.*1135T>G
ENST00000637014.1:n.1174T>G
ENST00000637095.1:c.*547T>G	ENSP00000490415.1:n.*547T>G
ENST00000637244.1:c.*1285T>G	ENSP00000490188.1:n.*1285T>G
ENST00000637343.1:n.2204T>G
ENST00000637429.1:c.*979T>G	ENSP00000490522.1:n.*979T>G
ENST00000637484.1:c.*729T>G	ENSP00000490837.1:n.*729T>G
ENST00000637528.1:c.704T>G	ENSP00000490801.1:p.Val235Gly
ENST00000637609.1:n.3488T>G
ENST00000637636.1:c.761T>G	ENSP00000490112.1:p.Val254Gly
ENST00000637790.2:c.767T>G MANE Select	ENSP00000490272.1:p.Val256Gly
ENST00000637857.1:n.1133T>G
ENST00000637922.1:c.572T>G	ENSP00000490071.1:p.Val191Gly
ENST00000637991.1:c.740T>G	ENSP00000489901.1:p.Val247Gly
ENST00000638028.1:n.984T>G
ENST00000638069.1:n.1588T>G
ENST00000262097.10:c.767T>G	ENSP00000262097.6:p.Val256Gly
ENST00000314146.10:c.749T>G	ENSP00000326970.10:p.Val250Gly
ENST00000381733.8:c.815T>G	ENSP00000371152.4:p.Val272Gly
ENST00000519468.5:n.596T>G
ENST00000520781.5:c.692T>G	ENSP00000427751.1:p.Val231Gly
ENST00000521542.1:n.480T>G
NM_001127505.1:c.749T>G	NP_001120977.1:p.Val250Gly
NM_001127505.2:c.749T>G	NP_001120977.1:p.Val250Gly
NM_004315.4:c.815T>G	NP_004306.3:p.Val272Gly
NM_004315.5:c.815T>G	NP_004306.3:p.Val272Gly
NM_177924.3:c.767T>G	NP_808592.2:p.Val256Gly
NM_177924.4:c.767T>G	NP_808592.2:p.Val256Gly
XM_005273504.2:c.701T>G	XP_005273561.1:p.Val234Gly
NM_001363743.1:c.572T>G	NP_001350672.1:p.Val191Gly
XM_005273504.3:c.701T>G	XP_005273561.1:p.Val234Gly
NM_177924.5:c.767T>G MANE Select	NP_808592.2:p.Val256Gly
NM_001127505.3:c.749T>G	NP_001120977.1:p.Val250Gly
NM_001363743.2:c.572T>G	NP_001350672.1:p.Val191Gly
NM_004315.6:c.815T>G	NP_004306.3:p.Val272Gly