Canonical Allele Identifier: CA370429408

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918935C>G (hg19) ; chr8:g.18061426C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061426C>G , CM000670.2:g.18061426C>G	GRCh38
NC_000008.10:g.17918935C>G , CM000670.1:g.17918935C>G	GRCh37
NC_000008.9:g.17963215C>G	NCBI36
NG_008985.1:g.28573G>C
NG_008985.2:g.28573G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.784G>C	ENSP00000371152.4:p.Val262Leu
ENST00000517409.2:n.704G>C
ENST00000518746.2:n.2422G>C
ENST00000519545.6:n.753G>C
ENST00000520781.6:c.661G>C	ENSP00000427751.1:p.Val221Leu
ENST00000521542.2:n.44G>C
ENST00000635756.1:c.149G>C
ENST00000635944.1:c.*572G>C	ENSP00000490195.1:n.*572G>C
ENST00000635998.1:c.736G>C	ENSP00000490506.1:p.Val246Leu
ENST00000636009.1:c.593G>C	ENSP00000489988.1:n.593G>C
ENST00000636033.1:c.*572G>C	ENSP00000489617.1:n.*572G>C
ENST00000636050.1:c.*579G>C	ENSP00000490562.1:n.*579G>C
ENST00000636128.1:c.415G>C	ENSP00000489789.1:p.Val139Leu
ENST00000636160.1:c.*628G>C	ENSP00000489651.1:n.*628G>C
ENST00000636171.1:c.679G>C	ENSP00000489761.1:p.Val227Leu
ENST00000636455.1:c.784G>C	ENSP00000490502.1:p.Val262Leu
ENST00000636494.1:c.*516G>C	ENSP00000490388.1:n.*516G>C
ENST00000636563.1:n.398G>C
ENST00000636577.1:c.676G>C	ENSP00000490027.1:p.Val226Leu
ENST00000636691.1:c.541G>C	ENSP00000490725.1:p.Val181Leu
ENST00000636701.1:c.*387G>C	ENSP00000489800.1:n.*387G>C
ENST00000636815.1:c.653G>C
ENST00000636920.1:c.*572G>C	ENSP00000490437.1:n.*572G>C
ENST00000636997.1:c.649G>C	ENSP00000490093.1:p.Val217Leu
ENST00000637013.1:c.*1104G>C	ENSP00000490596.1:n.*1104G>C
ENST00000637014.1:n.1143G>C
ENST00000637095.1:c.*516G>C	ENSP00000490415.1:n.*516G>C
ENST00000637244.1:c.*1254G>C	ENSP00000490188.1:n.*1254G>C
ENST00000637343.1:n.2173G>C
ENST00000637429.1:c.*948G>C	ENSP00000490522.1:n.*948G>C
ENST00000637484.1:c.*698G>C	ENSP00000490837.1:n.*698G>C
ENST00000637528.1:c.673G>C	ENSP00000490801.1:p.Val225Leu
ENST00000637609.1:n.3457G>C
ENST00000637636.1:c.730G>C	ENSP00000490112.1:p.Val244Leu
ENST00000637790.2:c.736G>C MANE Select	ENSP00000490272.1:p.Val246Leu
ENST00000637857.1:n.1102G>C
ENST00000637922.1:c.541G>C	ENSP00000490071.1:p.Val181Leu
ENST00000637991.1:c.709G>C	ENSP00000489901.1:p.Val237Leu
ENST00000638028.1:n.953G>C
ENST00000638069.1:n.1557G>C
ENST00000262097.10:c.736G>C	ENSP00000262097.6:p.Val246Leu
ENST00000314146.10:c.718G>C	ENSP00000326970.10:p.Val240Leu
ENST00000381733.8:c.784G>C	ENSP00000371152.4:p.Val262Leu
ENST00000518746.1:n.553G>C
ENST00000519468.5:n.565G>C
ENST00000520781.5:c.661G>C	ENSP00000427751.1:p.Val221Leu
ENST00000521542.1:n.449G>C
NM_001127505.1:c.718G>C	NP_001120977.1:p.Val240Leu
NM_001127505.2:c.718G>C	NP_001120977.1:p.Val240Leu
NM_004315.4:c.784G>C	NP_004306.3:p.Val262Leu
NM_004315.5:c.784G>C	NP_004306.3:p.Val262Leu
NM_177924.3:c.736G>C	NP_808592.2:p.Val246Leu
NM_177924.4:c.736G>C	NP_808592.2:p.Val246Leu
XM_005273504.2:c.670G>C	XP_005273561.1:p.Val224Leu
NM_001363743.1:c.541G>C	NP_001350672.1:p.Val181Leu
XM_005273504.3:c.670G>C	XP_005273561.1:p.Val224Leu
NM_177924.5:c.736G>C MANE Select	NP_808592.2:p.Val246Leu
NM_001127505.3:c.718G>C	NP_001120977.1:p.Val240Leu
NM_001363743.2:c.541G>C	NP_001350672.1:p.Val181Leu
NM_004315.6:c.784G>C	NP_004306.3:p.Val262Leu