Canonical Allele Identifier: CA370429361

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918923C>G (hg19) ; chr8:g.18061414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061414C>G , CM000670.2:g.18061414C>G	GRCh38
NC_000008.10:g.17918923C>G , CM000670.1:g.17918923C>G	GRCh37
NC_000008.9:g.17963203C>G	NCBI36
NG_008985.1:g.28585G>C
NG_008985.2:g.28585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.796G>C	ENSP00000371152.4:p.Gly266Arg
ENST00000517409.2:n.716G>C
ENST00000518746.2:n.2434G>C
ENST00000519545.6:n.765G>C
ENST00000520781.6:c.673G>C	ENSP00000427751.1:p.Gly225Arg
ENST00000521542.2:n.56G>C
ENST00000635756.1:c.161G>C
ENST00000635944.1:c.*584G>C	ENSP00000490195.1:n.*584G>C
ENST00000635998.1:c.748G>C	ENSP00000490506.1:p.Gly250Arg
ENST00000636009.1:c.605G>C	ENSP00000489988.1:n.605G>C
ENST00000636033.1:c.*584G>C	ENSP00000489617.1:n.*584G>C
ENST00000636050.1:c.*591G>C	ENSP00000490562.1:n.*591G>C
ENST00000636128.1:c.427G>C	ENSP00000489789.1:p.Gly143Arg
ENST00000636160.1:c.*640G>C	ENSP00000489651.1:n.*640G>C
ENST00000636171.1:c.691G>C	ENSP00000489761.1:p.Gly231Arg
ENST00000636455.1:c.796G>C	ENSP00000490502.1:p.Gly266Arg
ENST00000636494.1:c.*528G>C	ENSP00000490388.1:n.*528G>C
ENST00000636563.1:n.410G>C
ENST00000636577.1:c.688G>C	ENSP00000490027.1:p.Gly230Arg
ENST00000636691.1:c.553G>C	ENSP00000490725.1:p.Gly185Arg
ENST00000636701.1:c.*399G>C	ENSP00000489800.1:n.*399G>C
ENST00000636815.1:c.665G>C
ENST00000636920.1:c.*584G>C	ENSP00000490437.1:n.*584G>C
ENST00000636997.1:c.661G>C	ENSP00000490093.1:p.Gly221Arg
ENST00000637013.1:c.*1116G>C	ENSP00000490596.1:n.*1116G>C
ENST00000637014.1:n.1155G>C
ENST00000637095.1:c.*528G>C	ENSP00000490415.1:n.*528G>C
ENST00000637244.1:c.*1266G>C	ENSP00000490188.1:n.*1266G>C
ENST00000637343.1:n.2185G>C
ENST00000637429.1:c.*960G>C	ENSP00000490522.1:n.*960G>C
ENST00000637484.1:c.*710G>C	ENSP00000490837.1:n.*710G>C
ENST00000637528.1:c.685G>C	ENSP00000490801.1:p.Gly229Arg
ENST00000637609.1:n.3469G>C
ENST00000637636.1:c.742G>C	ENSP00000490112.1:p.Gly248Arg
ENST00000637790.2:c.748G>C MANE Select	ENSP00000490272.1:p.Gly250Arg
ENST00000637857.1:n.1114G>C
ENST00000637922.1:c.553G>C	ENSP00000490071.1:p.Gly185Arg
ENST00000637991.1:c.721G>C	ENSP00000489901.1:p.Gly241Arg
ENST00000638028.1:n.965G>C
ENST00000638069.1:n.1569G>C
ENST00000262097.10:c.748G>C	ENSP00000262097.6:p.Gly250Arg
ENST00000314146.10:c.730G>C	ENSP00000326970.10:p.Gly244Arg
ENST00000381733.8:c.796G>C	ENSP00000371152.4:p.Gly266Arg
ENST00000518746.1:n.565G>C
ENST00000519468.5:n.577G>C
ENST00000520781.5:c.673G>C	ENSP00000427751.1:p.Gly225Arg
ENST00000521542.1:n.461G>C
NM_001127505.1:c.730G>C	NP_001120977.1:p.Gly244Arg
NM_001127505.2:c.730G>C	NP_001120977.1:p.Gly244Arg
NM_004315.4:c.796G>C	NP_004306.3:p.Gly266Arg
NM_004315.5:c.796G>C	NP_004306.3:p.Gly266Arg
NM_177924.3:c.748G>C	NP_808592.2:p.Gly250Arg
NM_177924.4:c.748G>C	NP_808592.2:p.Gly250Arg
XM_005273504.2:c.682G>C	XP_005273561.1:p.Gly228Arg
NM_001363743.1:c.553G>C	NP_001350672.1:p.Gly185Arg
XM_005273504.3:c.682G>C	XP_005273561.1:p.Gly228Arg
NM_177924.5:c.748G>C MANE Select	NP_808592.2:p.Gly250Arg
NM_001127505.3:c.730G>C	NP_001120977.1:p.Gly244Arg
NM_001363743.2:c.553G>C	NP_001350672.1:p.Gly185Arg
NM_004315.6:c.796G>C	NP_004306.3:p.Gly266Arg