Canonical Allele Identifier: CA370430988

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18063186C>A , CM000670.2:g.18063186C>A	GRCh38
NC_000008.10:g.17920695C>A , CM000670.1:g.17920695C>A	GRCh37
NC_000008.9:g.17964975C>A	NCBI36
NG_008985.1:g.26813G>T
NG_008985.2:g.26813G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.502G>T MANE Select	NP_808592.2:p.Gly168Trp
ENST00000637790.2:c.502G>T MANE Select	ENSP00000490272.1:p.Gly168Trp
NM_001127505.1:c.484G>T	NP_001120977.1:p.Gly162Trp
NM_001127505.2:c.484G>T	NP_001120977.1:p.Gly162Trp
NM_001127505.3:c.484G>T	NP_001120977.1:p.Gly162Trp
NM_001363743.1:c.307G>T	NP_001350672.1:p.Gly103Trp
NM_001363743.2:c.307G>T	NP_001350672.1:p.Gly103Trp
NM_004315.4:c.550G>T	NP_004306.3:p.Gly184Trp
NM_004315.5:c.550G>T	NP_004306.3:p.Gly184Trp
NM_004315.6:c.550G>T	NP_004306.3:p.Gly184Trp
NM_177924.3:c.502G>T	NP_808592.2:p.Gly168Trp
NM_177924.4:c.502G>T	NP_808592.2:p.Gly168Trp
ENST00000262097.10:c.502G>T	ENSP00000262097.6:p.Gly168Trp
ENST00000314146.10:c.484G>T	ENSP00000326970.10:p.Gly162Trp
ENST00000381733.8:c.550G>T	ENSP00000371152.4:p.Gly184Trp
ENST00000381733.9:c.550G>T	ENSP00000371152.4:p.Gly184Trp
ENST00000517409.1:n.439G>T
ENST00000517409.2:n.439G>T
ENST00000518746.2:n.662G>T
ENST00000519468.5:n.389-819G>T
ENST00000519545.5:n.516G>T
ENST00000519545.6:n.519G>T
ENST00000520781.5:c.427G>T	ENSP00000427751.1:p.Gly143Trp
ENST00000520781.6:c.427G>T	ENSP00000427751.1:p.Gly143Trp
ENST00000523593.5:n.355G>T
ENST00000523593.6:c.*345G>T	ENSP00000490700.1:n.*345G>T
ENST00000523744.1:n.505G>T
ENST00000523744.2:n.5486G>T
ENST00000635769.1:c.523G>T	ENSP00000490485.1:p.Gly175Trp
ENST00000635944.1:c.*338G>T	ENSP00000490195.1:n.*338G>T
ENST00000635998.1:c.502G>T	ENSP00000490506.1:p.Gly168Trp
ENST00000636009.1:c.359G>T	ENSP00000489988.1:n.359G>T
ENST00000636033.1:c.*338G>T	ENSP00000489617.1:n.*338G>T
ENST00000636050.1:c.*345G>T	ENSP00000490562.1:n.*345G>T
ENST00000636128.1:c.383-1728G>T	ENSP00000489789.1:n.383-1728G>T
ENST00000636160.1:c.*394G>T	ENSP00000489651.1:n.*394G>T
ENST00000636171.1:c.445G>T	ENSP00000489761.1:p.Gly149Trp
ENST00000636299.1:c.*273G>T	ENSP00000490202.1:n.*273G>T
ENST00000636435.1:n.4500G>T
ENST00000636455.1:c.550G>T	ENSP00000490502.1:p.Gly184Trp
ENST00000636494.1:c.*282G>T	ENSP00000490388.1:n.*282G>T
ENST00000636563.1:n.164G>T
ENST00000636577.1:c.442G>T	ENSP00000490027.1:p.Gly148Trp
ENST00000636691.1:c.307G>T	ENSP00000490725.1:p.Gly103Trp
ENST00000636701.1:c.*153G>T	ENSP00000489800.1:n.*153G>T
ENST00000636815.1:c.419G>T
ENST00000636823.1:c.307G>T	ENSP00000490798.1:p.Gly103Trp
ENST00000636920.1:c.*338G>T	ENSP00000490437.1:n.*338G>T
ENST00000636997.1:c.415G>T	ENSP00000490093.1:p.Gly139Trp
ENST00000637013.1:c.*870G>T	ENSP00000490596.1:n.*870G>T
ENST00000637095.1:c.*282G>T	ENSP00000490415.1:n.*282G>T
ENST00000637244.1:c.*1020G>T	ENSP00000490188.1:n.*1020G>T
ENST00000637343.1:n.1939G>T
ENST00000637429.1:c.*714G>T	ENSP00000490522.1:n.*714G>T
ENST00000637484.1:c.*464G>T	ENSP00000490837.1:n.*464G>T
ENST00000637528.1:c.439G>T	ENSP00000490801.1:p.Gly147Trp
ENST00000637603.1:c.472G>T	ENSP00000489979.1:p.Gly158Trp
ENST00000637609.1:n.3223G>T
ENST00000637636.1:c.496G>T	ENSP00000490112.1:p.Gly166Trp
ENST00000637718.1:c.307G>T	ENSP00000490133.1:p.Gly103Trp
ENST00000637857.1:n.105-763G>T
ENST00000637922.1:c.307G>T	ENSP00000490071.1:p.Gly103Trp
ENST00000637991.1:c.475G>T	ENSP00000489901.1:p.Gly159Trp
ENST00000638069.1:n.558G>T
XM_005273504.2:c.436G>T	XP_005273561.1:p.Gly146Trp
XM_005273504.3:c.436G>T	XP_005273561.1:p.Gly146Trp