Canonical Allele Identifier: CA370429405
Gene: ASAH1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.784G>T ENSP00000371152.4:p.Val262Phe
ENST00000517409.2:n.704G>T
ENST00000518746.2:n.2422G>T
ENST00000519545.6:n.753G>T
ENST00000520781.6:c.661G>T ENSP00000427751.1:p.Val221Phe
ENST00000521542.2:n.44G>T
ENST00000635756.1:c.149G>T
ENST00000635944.1:c.*572G>T ENSP00000490195.1:n.*572G>T
ENST00000635998.1:c.736G>T ENSP00000490506.1:p.Val246Phe
ENST00000636009.1:c.593G>T ENSP00000489988.1:n.593G>T
ENST00000636033.1:c.*572G>T ENSP00000489617.1:n.*572G>T
ENST00000636050.1:c.*579G>T ENSP00000490562.1:n.*579G>T
ENST00000636128.1:c.415G>T ENSP00000489789.1:p.Val139Phe
ENST00000636160.1:c.*628G>T ENSP00000489651.1:n.*628G>T
ENST00000636171.1:c.679G>T ENSP00000489761.1:p.Val227Phe
ENST00000636455.1:c.784G>T ENSP00000490502.1:p.Val262Phe
ENST00000636494.1:c.*516G>T ENSP00000490388.1:n.*516G>T
ENST00000636563.1:n.398G>T
ENST00000636577.1:c.676G>T ENSP00000490027.1:p.Val226Phe
ENST00000636691.1:c.541G>T ENSP00000490725.1:p.Val181Phe
ENST00000636701.1:c.*387G>T ENSP00000489800.1:n.*387G>T
ENST00000636815.1:c.653G>T
ENST00000636920.1:c.*572G>T ENSP00000490437.1:n.*572G>T
ENST00000636997.1:c.649G>T ENSP00000490093.1:p.Val217Phe
ENST00000637013.1:c.*1104G>T ENSP00000490596.1:n.*1104G>T
ENST00000637014.1:n.1143G>T
ENST00000637095.1:c.*516G>T ENSP00000490415.1:n.*516G>T
ENST00000637244.1:c.*1254G>T ENSP00000490188.1:n.*1254G>T
ENST00000637343.1:n.2173G>T
ENST00000637429.1:c.*948G>T ENSP00000490522.1:n.*948G>T
ENST00000637484.1:c.*698G>T ENSP00000490837.1:n.*698G>T
ENST00000637528.1:c.673G>T ENSP00000490801.1:p.Val225Phe
ENST00000637609.1:n.3457G>T
ENST00000637636.1:c.730G>T ENSP00000490112.1:p.Val244Phe
ENST00000637790.2:c.736G>T MANE Select ENSP00000490272.1:p.Val246Phe
ENST00000637857.1:n.1102G>T
ENST00000637922.1:c.541G>T ENSP00000490071.1:p.Val181Phe
ENST00000637991.1:c.709G>T ENSP00000489901.1:p.Val237Phe
ENST00000638028.1:n.953G>T
ENST00000638069.1:n.1557G>T
ENST00000262097.10:c.736G>T ENSP00000262097.6:p.Val246Phe
ENST00000314146.10:c.718G>T ENSP00000326970.10:p.Val240Phe
ENST00000381733.8:c.784G>T ENSP00000371152.4:p.Val262Phe
ENST00000518746.1:n.553G>T
ENST00000519468.5:n.565G>T
ENST00000520781.5:c.661G>T ENSP00000427751.1:p.Val221Phe
ENST00000521542.1:n.449G>T
NM_001127505.1:c.718G>T NP_001120977.1:p.Val240Phe
NM_001127505.2:c.718G>T NP_001120977.1:p.Val240Phe
NM_004315.4:c.784G>T NP_004306.3:p.Val262Phe
NM_004315.5:c.784G>T NP_004306.3:p.Val262Phe
NM_177924.3:c.736G>T NP_808592.2:p.Val246Phe
NM_177924.4:c.736G>T NP_808592.2:p.Val246Phe
XM_005273504.2:c.670G>T XP_005273561.1:p.Val224Phe
NM_001363743.1:c.541G>T NP_001350672.1:p.Val181Phe
XM_005273504.3:c.670G>T XP_005273561.1:p.Val224Phe
NM_177924.5:c.736G>T MANE Select NP_808592.2:p.Val246Phe
NM_001127505.3:c.718G>T NP_001120977.1:p.Val240Phe
NM_001363743.2:c.541G>T NP_001350672.1:p.Val181Phe
NM_004315.6:c.784G>T NP_004306.3:p.Val262Phe