Canonical Allele Identifier: CA370429462

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918953T>C (hg19) ; chr8:g.18061444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061444T>C , CM000670.2:g.18061444T>C	GRCh38
NC_000008.10:g.17918953T>C , CM000670.1:g.17918953T>C	GRCh37
NC_000008.9:g.17963233T>C	NCBI36
NG_008985.1:g.28555A>G
NG_008985.2:g.28555A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.766A>G	ENSP00000371152.4:p.Ile256Val
ENST00000517409.2:n.686A>G
ENST00000518746.2:n.2404A>G
ENST00000519545.6:n.735A>G
ENST00000520781.6:c.643A>G	ENSP00000427751.1:p.Ile215Val
ENST00000521542.2:n.26A>G
ENST00000635756.1:c.131A>G
ENST00000635944.1:c.*554A>G	ENSP00000490195.1:n.*554A>G
ENST00000635998.1:c.718A>G	ENSP00000490506.1:p.Ile240Val
ENST00000636009.1:c.575A>G	ENSP00000489988.1:n.575A>G
ENST00000636033.1:c.*554A>G	ENSP00000489617.1:n.*554A>G
ENST00000636050.1:c.*561A>G	ENSP00000490562.1:n.*561A>G
ENST00000636128.1:c.397A>G	ENSP00000489789.1:p.Ile133Val
ENST00000636160.1:c.*610A>G	ENSP00000489651.1:n.*610A>G
ENST00000636171.1:c.661A>G	ENSP00000489761.1:p.Ile221Val
ENST00000636455.1:c.766A>G	ENSP00000490502.1:p.Ile256Val
ENST00000636494.1:c.*498A>G	ENSP00000490388.1:n.*498A>G
ENST00000636563.1:n.380A>G
ENST00000636577.1:c.658A>G	ENSP00000490027.1:p.Ile220Val
ENST00000636691.1:c.523A>G	ENSP00000490725.1:p.Ile175Val
ENST00000636701.1:c.*369A>G	ENSP00000489800.1:n.*369A>G
ENST00000636815.1:c.635A>G
ENST00000636920.1:c.*554A>G	ENSP00000490437.1:n.*554A>G
ENST00000636997.1:c.631A>G	ENSP00000490093.1:p.Ile211Val
ENST00000637013.1:c.*1086A>G	ENSP00000490596.1:n.*1086A>G
ENST00000637014.1:n.1125A>G
ENST00000637095.1:c.*498A>G	ENSP00000490415.1:n.*498A>G
ENST00000637244.1:c.*1236A>G	ENSP00000490188.1:n.*1236A>G
ENST00000637343.1:n.2155A>G
ENST00000637429.1:c.*930A>G	ENSP00000490522.1:n.*930A>G
ENST00000637484.1:c.*680A>G	ENSP00000490837.1:n.*680A>G
ENST00000637528.1:c.655A>G	ENSP00000490801.1:p.Ile219Val
ENST00000637609.1:n.3439A>G
ENST00000637636.1:c.712A>G	ENSP00000490112.1:p.Ile238Val
ENST00000637790.2:c.718A>G MANE Select	ENSP00000490272.1:p.Ile240Val
ENST00000637857.1:n.1084A>G
ENST00000637922.1:c.523A>G	ENSP00000490071.1:p.Ile175Val
ENST00000637991.1:c.691A>G	ENSP00000489901.1:p.Ile231Val
ENST00000638028.1:n.935A>G
ENST00000638069.1:n.1539A>G
ENST00000262097.10:c.718A>G	ENSP00000262097.6:p.Ile240Val
ENST00000314146.10:c.700A>G	ENSP00000326970.10:p.Ile234Val
ENST00000381733.8:c.766A>G	ENSP00000371152.4:p.Ile256Val
ENST00000518746.1:n.535A>G
ENST00000519468.5:n.547A>G
ENST00000520781.5:c.643A>G	ENSP00000427751.1:p.Ile215Val
ENST00000521542.1:n.431A>G
NM_001127505.1:c.700A>G	NP_001120977.1:p.Ile234Val
NM_001127505.2:c.700A>G	NP_001120977.1:p.Ile234Val
NM_004315.4:c.766A>G	NP_004306.3:p.Ile256Val
NM_004315.5:c.766A>G	NP_004306.3:p.Ile256Val
NM_177924.3:c.718A>G	NP_808592.2:p.Ile240Val
NM_177924.4:c.718A>G	NP_808592.2:p.Ile240Val
XM_005273504.2:c.652A>G	XP_005273561.1:p.Ile218Val
NM_001363743.1:c.523A>G	NP_001350672.1:p.Ile175Val
XM_005273504.3:c.652A>G	XP_005273561.1:p.Ile218Val
NM_177924.5:c.718A>G MANE Select	NP_808592.2:p.Ile240Val
NM_001127505.3:c.700A>G	NP_001120977.1:p.Ile234Val
NM_001363743.2:c.523A>G	NP_001350672.1:p.Ile175Val
NM_004315.6:c.766A>G	NP_004306.3:p.Ile256Val