Canonical Allele Identifier: CA459669611

Gene: ASAH1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057615T>A , CM000670.2:g.18057615T>A	GRCh38
NC_000008.10:g.17915124T>A , CM000670.1:g.17915124T>A	GRCh37
NC_000008.9:g.17959404T>A	NCBI36
NG_008985.1:g.32384A>T
NG_008985.2:g.32384A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.1155A>T	ENSP00000371152.4:p.Val385=
ENST00000518746.2:n.2793A>T
ENST00000520781.6:c.1032A>T	ENSP00000427751.1:p.Val344=
ENST00000635756.1:c.520A>T
ENST00000635944.1:c.*943A>T	ENSP00000490195.1:n.*943A>T
ENST00000635998.1:c.1107A>T	ENSP00000490506.1:p.Val369=
ENST00000636009.1:c.964A>T	ENSP00000489988.1:n.964A>T
ENST00000636033.1:c.*943A>T	ENSP00000489617.1:n.*943A>T
ENST00000636050.1:c.*950A>T	ENSP00000490562.1:n.*950A>T
ENST00000636128.1:c.786A>T	ENSP00000489789.1:p.Val262=
ENST00000636160.1:c.*999A>T	ENSP00000489651.1:n.*999A>T
ENST00000636171.1:c.1050A>T	ENSP00000489761.1:p.Val350=
ENST00000636455.1:c.*5A>T	ENSP00000490502.1:n.*5A>T
ENST00000636494.1:c.*887A>T	ENSP00000490388.1:n.*887A>T
ENST00000636563.1:n.769A>T
ENST00000636577.1:c.1047A>T	ENSP00000490027.1:p.Val349=
ENST00000636691.1:c.912A>T	ENSP00000490725.1:p.Val304=
ENST00000636701.1:c.*758A>T	ENSP00000489800.1:n.*758A>T
ENST00000636815.1:c.1024A>T
ENST00000636920.1:c.*943A>T	ENSP00000490437.1:n.*943A>T
ENST00000636997.1:c.1020A>T	ENSP00000490093.1:p.Val340=
ENST00000637013.1:c.*1475A>T	ENSP00000490596.1:n.*1475A>T
ENST00000637014.1:n.1514A>T
ENST00000637095.1:c.*887A>T	ENSP00000490415.1:n.*887A>T
ENST00000637244.1:c.*1625A>T	ENSP00000490188.1:n.*1625A>T
ENST00000637343.1:n.2544A>T
ENST00000637429.1:c.*1319A>T	ENSP00000490522.1:n.*1319A>T
ENST00000637484.1:c.*1069A>T	ENSP00000490837.1:n.*1069A>T
ENST00000637528.1:c.1044A>T	ENSP00000490801.1:p.Val348=
ENST00000637609.1:n.3828A>T
ENST00000637636.1:c.1101A>T	ENSP00000490112.1:p.Val367=
ENST00000637752.1:n.1549A>T
ENST00000637790.2:c.1107A>T MANE Select	ENSP00000490272.1:p.Val369=
ENST00000637857.1:n.1473A>T
ENST00000637922.1:c.912A>T	ENSP00000490071.1:p.Val304=
ENST00000637991.1:c.1080A>T	ENSP00000489901.1:p.Val360=
ENST00000638028.1:n.1324A>T
ENST00000638069.1:n.1928A>T
ENST00000262097.10:c.1107A>T	ENSP00000262097.6:p.Val369=
ENST00000314146.10:c.1089A>T	ENSP00000326970.10:p.Val363=
ENST00000381733.8:c.1155A>T	ENSP00000371152.4:p.Val385=
ENST00000520781.5:c.1032A>T	ENSP00000427751.1:p.Val344=
NM_001127505.1:c.1089A>T	NP_001120977.1:p.Val363=
NM_001127505.2:c.1089A>T	NP_001120977.1:p.Val363=
NM_004315.4:c.1155A>T	NP_004306.3:p.Val385=
NM_004315.5:c.1155A>T	NP_004306.3:p.Val385=
NM_177924.3:c.1107A>T	NP_808592.2:p.Val369=
NM_177924.4:c.1107A>T	NP_808592.2:p.Val369=
XM_005273504.2:c.1041A>T	XP_005273561.1:p.Val347=
NM_001363743.1:c.912A>T	NP_001350672.1:p.Val304=
XM_005273504.3:c.1041A>T	XP_005273561.1:p.Val347=
NM_177924.5:c.1107A>T MANE Select	NP_808592.2:p.Val369=
NM_001127505.3:c.1089A>T	NP_001120977.1:p.Val363=
NM_001363743.2:c.912A>T	NP_001350672.1:p.Val304=
NM_004315.6:c.1155A>T	NP_004306.3:p.Val385=