Canonical Allele Identifier: CA236461

Gene: ASAH1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18062422A>G , CM000670.2:g.18062422A>G	GRCh38
NC_000008.10:g.17919931A>G , CM000670.1:g.17919931A>G	GRCh37
NC_000008.9:g.17964211A>G	NCBI36
NG_008985.1:g.27577T>C
NG_008985.2:g.27577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.553T>C	ENSP00000371152.4:p.Trp185Arg
ENST00000517409.2:n.442T>C
ENST00000518746.2:n.1426T>C
ENST00000519545.6:n.522T>C
ENST00000520781.6:c.430T>C	ENSP00000427751.1:p.Trp144Arg
ENST00000523593.6:c.*348T>C	ENSP00000490700.1:n.*348T>C
ENST00000635769.1:c.526T>C	ENSP00000490485.1:p.Trp176Arg
ENST00000635944.1:c.*341T>C	ENSP00000490195.1:n.*341T>C
ENST00000635998.1:c.505T>C	ENSP00000490506.1:p.Trp169Arg
ENST00000636009.1:c.362T>C	ENSP00000489988.1:n.362T>C
ENST00000636033.1:c.*341T>C	ENSP00000489617.1:n.*341T>C
ENST00000636050.1:c.*348T>C	ENSP00000490562.1:n.*348T>C
ENST00000636128.1:c.383-964T>C	ENSP00000489789.1:n.383-964T>C
ENST00000636160.1:c.*397T>C	ENSP00000489651.1:n.*397T>C
ENST00000636171.1:c.448T>C	ENSP00000489761.1:p.Trp150Arg
ENST00000636299.1:c.*276T>C	ENSP00000490202.1:n.*276T>C
ENST00000636455.1:c.553T>C	ENSP00000490502.1:p.Trp185Arg
ENST00000636494.1:c.*285T>C	ENSP00000490388.1:n.*285T>C
ENST00000636563.1:n.167T>C
ENST00000636577.1:c.445T>C	ENSP00000490027.1:p.Trp149Arg
ENST00000636691.1:c.310T>C	ENSP00000490725.1:p.Trp104Arg
ENST00000636701.1:c.*156T>C	ENSP00000489800.1:n.*156T>C
ENST00000636719.1:n.299T>C
ENST00000636815.1:c.422T>C
ENST00000636823.1:c.310T>C	ENSP00000490798.1:p.Trp104Arg
ENST00000636920.1:c.*341T>C	ENSP00000490437.1:n.*341T>C
ENST00000636997.1:c.418T>C	ENSP00000490093.1:p.Trp140Arg
ENST00000637013.1:c.*873T>C	ENSP00000490596.1:n.*873T>C
ENST00000637014.1:n.374T>C
ENST00000637095.1:c.*285T>C	ENSP00000490415.1:n.*285T>C
ENST00000637244.1:c.*1023T>C	ENSP00000490188.1:n.*1023T>C
ENST00000637343.1:n.1942T>C
ENST00000637429.1:c.*717T>C	ENSP00000490522.1:n.*717T>C
ENST00000637484.1:c.*467T>C	ENSP00000490837.1:n.*467T>C
ENST00000637528.1:c.442T>C	ENSP00000490801.1:p.Trp148Arg
ENST00000637603.1:c.475T>C	ENSP00000489979.1:p.Trp159Arg
ENST00000637609.1:n.3226T>C
ENST00000637636.1:c.499T>C	ENSP00000490112.1:p.Trp167Arg
ENST00000637718.1:c.310T>C	ENSP00000490133.1:p.Trp104Arg
ENST00000637790.2:c.505T>C MANE Select	ENSP00000490272.1:p.Trp169Arg
ENST00000637857.1:n.106T>C
ENST00000637922.1:c.310T>C	ENSP00000490071.1:p.Trp104Arg
ENST00000637991.1:c.478T>C	ENSP00000489901.1:p.Trp160Arg
ENST00000638028.1:n.722T>C
ENST00000638069.1:n.561T>C
ENST00000262097.10:c.505T>C	ENSP00000262097.6:p.Trp169Arg
ENST00000314146.10:c.487T>C	ENSP00000326970.10:p.Trp163Arg
ENST00000381733.8:c.553T>C	ENSP00000371152.4:p.Trp185Arg
ENST00000517409.1:n.442T>C
ENST00000519468.5:n.389-55T>C
ENST00000519545.5:n.519T>C
ENST00000520781.5:c.430T>C	ENSP00000427751.1:p.Trp144Arg
ENST00000523593.5:n.358T>C
NM_001127505.1:c.487T>C	NP_001120977.1:p.Trp163Arg
NM_001127505.2:c.487T>C	NP_001120977.1:p.Trp163Arg
NM_004315.4:c.553T>C	NP_004306.3:p.Trp185Arg
NM_004315.5:c.553T>C	NP_004306.3:p.Trp185Arg
NM_177924.3:c.505T>C	NP_808592.2:p.Trp169Arg
NM_177924.4:c.505T>C	NP_808592.2:p.Trp169Arg
XM_005273504.2:c.439T>C	XP_005273561.1:p.Trp147Arg
NM_001363743.1:c.310T>C	NP_001350672.1:p.Trp104Arg
XM_005273504.3:c.439T>C	XP_005273561.1:p.Trp147Arg
NM_177924.5:c.505T>C MANE Select	NP_808592.2:p.Trp169Arg
NM_001127505.3:c.487T>C	NP_001120977.1:p.Trp163Arg
NM_001363743.2:c.310T>C	NP_001350672.1:p.Trp104Arg
NM_004315.6:c.553T>C	NP_004306.3:p.Trp185Arg