Canonical Allele Identifier: CA4650600
Community Standard Title: NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18059378G>A , CM000670.2:g.18059378G>A GRCh38
NC_000008.10:g.17916887G>A , CM000670.1:g.17916887G>A GRCh37
NC_000008.9:g.17961167G>A NCBI36
NG_008985.1:g.30621C>T
NG_008985.2:g.30621C>T

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.1004C>T MANE Select NP_808592.2:p.Thr335Met
ENST00000637790.2:c.1004C>T MANE Select ENSP00000490272.1:p.Thr335Met
NM_001127505.1:c.986C>T NP_001120977.1:p.Thr329Met
NM_001127505.2:c.986C>T NP_001120977.1:p.Thr329Met
NM_001127505.3:c.986C>T NP_001120977.1:p.Thr329Met
NM_001363743.1:c.809C>T NP_001350672.1:p.Thr270Met
NM_001363743.2:c.809C>T NP_001350672.1:p.Thr270Met
NM_004315.4:c.1052C>T NP_004306.3:p.Thr351Met
NM_004315.5:c.1052C>T NP_004306.3:p.Thr351Met
NM_004315.6:c.1052C>T NP_004306.3:p.Thr351Met
NM_177924.3:c.1004C>T NP_808592.2:p.Thr335Met
NM_177924.4:c.1004C>T NP_808592.2:p.Thr335Met
ENST00000262097.10:c.1004C>T ENSP00000262097.6:p.Thr335Met
ENST00000314146.10:c.986C>T ENSP00000326970.10:p.Thr329Met
ENST00000381733.8:c.1052C>T ENSP00000371152.4:p.Thr351Met
ENST00000381733.9:c.1052C>T ENSP00000371152.4:p.Thr351Met
ENST00000518746.2:n.2690C>T
ENST00000520781.5:c.929C>T ENSP00000427751.1:p.Thr310Met
ENST00000520781.6:c.929C>T ENSP00000427751.1:p.Thr310Met
ENST00000635756.1:c.417C>T
ENST00000635944.1:c.*840C>T ENSP00000490195.1:n.*840C>T
ENST00000635998.1:c.1004C>T ENSP00000490506.1:p.Thr335Met
ENST00000636009.1:c.861C>T ENSP00000489988.1:n.861C>T
ENST00000636033.1:c.*840C>T ENSP00000489617.1:n.*840C>T
ENST00000636050.1:c.*847C>T ENSP00000490562.1:n.*847C>T
ENST00000636128.1:c.683C>T ENSP00000489789.1:p.Thr228Met
ENST00000636160.1:c.*896C>T ENSP00000489651.1:n.*896C>T
ENST00000636171.1:c.947C>T ENSP00000489761.1:p.Thr316Met
ENST00000636455.1:c.965+194C>T ENSP00000490502.1:n.965+194C>T
ENST00000636494.1:c.*784C>T ENSP00000490388.1:n.*784C>T
ENST00000636563.1:n.666C>T
ENST00000636577.1:c.944C>T ENSP00000490027.1:p.Thr315Met
ENST00000636691.1:c.809C>T ENSP00000490725.1:p.Thr270Met
ENST00000636701.1:c.*655C>T ENSP00000489800.1:n.*655C>T
ENST00000636815.1:c.921C>T
ENST00000636920.1:c.*840C>T ENSP00000490437.1:n.*840C>T
ENST00000636997.1:c.917C>T ENSP00000490093.1:p.Thr306Met
ENST00000637013.1:c.*1372C>T ENSP00000490596.1:n.*1372C>T
ENST00000637014.1:n.1411C>T
ENST00000637095.1:c.*784C>T ENSP00000490415.1:n.*784C>T
ENST00000637244.1:c.*1522C>T ENSP00000490188.1:n.*1522C>T
ENST00000637343.1:n.2441C>T
ENST00000637429.1:c.*1216C>T ENSP00000490522.1:n.*1216C>T
ENST00000637484.1:c.*966C>T ENSP00000490837.1:n.*966C>T
ENST00000637528.1:c.941C>T ENSP00000490801.1:p.Thr314Met
ENST00000637609.1:n.3725C>T
ENST00000637636.1:c.998C>T ENSP00000490112.1:p.Thr333Met
ENST00000637857.1:n.1370C>T
ENST00000637922.1:c.809C>T ENSP00000490071.1:p.Thr270Met
ENST00000637991.1:c.977C>T ENSP00000489901.1:p.Thr326Met
ENST00000638028.1:n.1221C>T
ENST00000638069.1:n.1825C>T
XM_005273504.2:c.938C>T XP_005273561.1:p.Thr313Met
XM_005273504.3:c.938C>T XP_005273561.1:p.Thr313Met