Canonical Allele Identifier: CA4650644

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059603G>A , CM000670.2:g.18059603G>A	GRCh38
NC_000008.10:g.17917112G>A , CM000670.1:g.17917112G>A	GRCh37
NC_000008.9:g.17961392G>A	NCBI36
NG_008985.1:g.30396C>T
NG_008985.2:g.30396C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.886C>T MANE Select	NP_808592.2:p.Arg296Ter
ENST00000637790.2:c.886C>T MANE Select	ENSP00000490272.1:p.Arg296Ter
NM_001127505.1:c.868C>T	NP_001120977.1:p.Arg290Ter
NM_001127505.2:c.868C>T	NP_001120977.1:p.Arg290Ter
NM_001127505.3:c.868C>T	NP_001120977.1:p.Arg290Ter
NM_001363743.1:c.691C>T	NP_001350672.1:p.Arg231Ter
NM_001363743.2:c.691C>T	NP_001350672.1:p.Arg231Ter
NM_004315.4:c.934C>T	NP_004306.3:p.Arg312Ter
NM_004315.5:c.934C>T	NP_004306.3:p.Arg312Ter
NM_004315.6:c.934C>T	NP_004306.3:p.Arg312Ter
NM_177924.3:c.886C>T	NP_808592.2:p.Arg296Ter
NM_177924.4:c.886C>T	NP_808592.2:p.Arg296Ter
ENST00000262097.10:c.886C>T	ENSP00000262097.6:p.Arg296Ter
ENST00000314146.10:c.868C>T	ENSP00000326970.10:p.Arg290Ter
ENST00000381733.8:c.934C>T	ENSP00000371152.4:p.Arg312Ter
ENST00000381733.9:c.934C>T	ENSP00000371152.4:p.Arg312Ter
ENST00000518746.2:n.2572C>T
ENST00000519468.5:n.715C>T
ENST00000520781.5:c.811C>T	ENSP00000427751.1:p.Arg271Ter
ENST00000520781.6:c.811C>T	ENSP00000427751.1:p.Arg271Ter
ENST00000521542.2:n.1867C>T
ENST00000635756.1:c.299C>T
ENST00000635944.1:c.*722C>T	ENSP00000490195.1:n.*722C>T
ENST00000635998.1:c.886C>T	ENSP00000490506.1:p.Arg296Ter
ENST00000636009.1:c.743C>T	ENSP00000489988.1:n.743C>T
ENST00000636033.1:c.*722C>T	ENSP00000489617.1:n.*722C>T
ENST00000636050.1:c.*729C>T	ENSP00000490562.1:n.*729C>T
ENST00000636128.1:c.565C>T	ENSP00000489789.1:p.Arg189Ter
ENST00000636160.1:c.*778C>T	ENSP00000489651.1:n.*778C>T
ENST00000636171.1:c.829C>T	ENSP00000489761.1:p.Arg277Ter
ENST00000636455.1:c.934C>T	ENSP00000490502.1:p.Arg312Ter
ENST00000636494.1:c.*666C>T	ENSP00000490388.1:n.*666C>T
ENST00000636563.1:n.548C>T
ENST00000636577.1:c.826C>T	ENSP00000490027.1:p.Arg276Ter
ENST00000636691.1:c.691C>T	ENSP00000490725.1:p.Arg231Ter
ENST00000636701.1:c.*537C>T	ENSP00000489800.1:n.*537C>T
ENST00000636815.1:c.803C>T
ENST00000636920.1:c.*722C>T	ENSP00000490437.1:n.*722C>T
ENST00000636997.1:c.799C>T	ENSP00000490093.1:p.Arg267Ter
ENST00000637013.1:c.*1254C>T	ENSP00000490596.1:n.*1254C>T
ENST00000637014.1:n.1293C>T
ENST00000637095.1:c.*666C>T	ENSP00000490415.1:n.*666C>T
ENST00000637244.1:c.*1404C>T	ENSP00000490188.1:n.*1404C>T
ENST00000637343.1:n.2323C>T
ENST00000637429.1:c.*1098C>T	ENSP00000490522.1:n.*1098C>T
ENST00000637484.1:c.*848C>T	ENSP00000490837.1:n.*848C>T
ENST00000637528.1:c.823C>T	ENSP00000490801.1:p.Arg275Ter
ENST00000637609.1:n.3607C>T
ENST00000637636.1:c.880C>T	ENSP00000490112.1:p.Arg294Ter
ENST00000637857.1:n.1252C>T
ENST00000637922.1:c.691C>T	ENSP00000490071.1:p.Arg231Ter
ENST00000637991.1:c.859C>T	ENSP00000489901.1:p.Arg287Ter
ENST00000638028.1:n.1103C>T
ENST00000638069.1:n.1707C>T
XM_005273504.2:c.820C>T	XP_005273561.1:p.Arg274Ter
XM_005273504.3:c.820C>T	XP_005273561.1:p.Arg274Ter