Canonical Allele Identifier: CA370431037

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18063197C>A , CM000670.2:g.18063197C>A	GRCh38
NC_000008.10:g.17920706C>A , CM000670.1:g.17920706C>A	GRCh37
NC_000008.9:g.17964986C>A	NCBI36
NG_008985.1:g.26802G>T
NG_008985.2:g.26802G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.491G>T MANE Select	NP_808592.2:p.Gly164Val
ENST00000637790.2:c.491G>T MANE Select	ENSP00000490272.1:p.Gly164Val
NM_001127505.1:c.473G>T	NP_001120977.1:p.Gly158Val
NM_001127505.2:c.473G>T	NP_001120977.1:p.Gly158Val
NM_001127505.3:c.473G>T	NP_001120977.1:p.Gly158Val
NM_001363743.1:c.296G>T	NP_001350672.1:p.Gly99Val
NM_001363743.2:c.296G>T	NP_001350672.1:p.Gly99Val
NM_004315.4:c.539G>T	NP_004306.3:p.Gly180Val
NM_004315.5:c.539G>T	NP_004306.3:p.Gly180Val
NM_004315.6:c.539G>T	NP_004306.3:p.Gly180Val
NM_177924.3:c.491G>T	NP_808592.2:p.Gly164Val
NM_177924.4:c.491G>T	NP_808592.2:p.Gly164Val
ENST00000262097.10:c.491G>T	ENSP00000262097.6:p.Gly164Val
ENST00000314146.10:c.473G>T	ENSP00000326970.10:p.Gly158Val
ENST00000381733.8:c.539G>T	ENSP00000371152.4:p.Gly180Val
ENST00000381733.9:c.539G>T	ENSP00000371152.4:p.Gly180Val
ENST00000517409.1:n.428G>T
ENST00000517409.2:n.428G>T
ENST00000518746.2:n.651G>T
ENST00000519468.5:n.389-830G>T
ENST00000519545.5:n.505G>T
ENST00000519545.6:n.508G>T
ENST00000520781.5:c.416G>T	ENSP00000427751.1:p.Gly139Val
ENST00000520781.6:c.416G>T	ENSP00000427751.1:p.Gly139Val
ENST00000523593.5:n.344G>T
ENST00000523593.6:c.*334G>T	ENSP00000490700.1:n.*334G>T
ENST00000523744.1:n.494G>T
ENST00000523744.2:n.5475G>T
ENST00000635769.1:c.512G>T	ENSP00000490485.1:p.Gly171Val
ENST00000635944.1:c.*327G>T	ENSP00000490195.1:n.*327G>T
ENST00000635998.1:c.491G>T	ENSP00000490506.1:p.Gly164Val
ENST00000636009.1:c.348G>T	ENSP00000489988.1:n.348G>T
ENST00000636033.1:c.*327G>T	ENSP00000489617.1:n.*327G>T
ENST00000636050.1:c.*334G>T	ENSP00000490562.1:n.*334G>T
ENST00000636128.1:c.383-1739G>T	ENSP00000489789.1:n.383-1739G>T
ENST00000636160.1:c.*383G>T	ENSP00000489651.1:n.*383G>T
ENST00000636171.1:c.434G>T	ENSP00000489761.1:p.Gly145Val
ENST00000636299.1:c.*262G>T	ENSP00000490202.1:n.*262G>T
ENST00000636435.1:n.4489G>T
ENST00000636455.1:c.539G>T	ENSP00000490502.1:p.Gly180Val
ENST00000636494.1:c.*271G>T	ENSP00000490388.1:n.*271G>T
ENST00000636563.1:n.153G>T
ENST00000636577.1:c.431G>T	ENSP00000490027.1:p.Gly144Val
ENST00000636691.1:c.296G>T	ENSP00000490725.1:p.Gly99Val
ENST00000636701.1:c.*142G>T	ENSP00000489800.1:n.*142G>T
ENST00000636815.1:c.408G>T
ENST00000636823.1:c.296G>T	ENSP00000490798.1:p.Gly99Val
ENST00000636920.1:c.*327G>T	ENSP00000490437.1:n.*327G>T
ENST00000636997.1:c.404G>T	ENSP00000490093.1:p.Gly135Val
ENST00000637013.1:c.*859G>T	ENSP00000490596.1:n.*859G>T
ENST00000637095.1:c.*271G>T	ENSP00000490415.1:n.*271G>T
ENST00000637244.1:c.*1009G>T	ENSP00000490188.1:n.*1009G>T
ENST00000637343.1:n.1928G>T
ENST00000637429.1:c.*703G>T	ENSP00000490522.1:n.*703G>T
ENST00000637484.1:c.*453G>T	ENSP00000490837.1:n.*453G>T
ENST00000637528.1:c.428G>T	ENSP00000490801.1:p.Gly143Val
ENST00000637603.1:c.461G>T	ENSP00000489979.1:p.Gly154Val
ENST00000637609.1:n.3212G>T
ENST00000637636.1:c.485G>T	ENSP00000490112.1:p.Gly162Val
ENST00000637718.1:c.296G>T	ENSP00000490133.1:p.Gly99Val
ENST00000637857.1:n.105-774G>T
ENST00000637922.1:c.296G>T	ENSP00000490071.1:p.Gly99Val
ENST00000637991.1:c.464G>T	ENSP00000489901.1:p.Gly155Val
ENST00000638069.1:n.547G>T
XM_005273504.2:c.425G>T	XP_005273561.1:p.Gly142Val
XM_005273504.3:c.425G>T	XP_005273561.1:p.Gly142Val