Canonical Allele Identifier: CA218767948
Community Standard Title: NM_213599.3(ANO5):c.1671C>T (p.Thr557=)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22262169C>T , CM000673.2:g.22262169C>T GRCh38
NC_000011.9:g.22283715C>T , CM000673.1:g.22283715C>T GRCh37
NC_000011.8:g.22240291C>T NCBI36
NG_015844.1:g.73994C>T , LRG_868:g.73994C>T

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.1671C>T MANE Select NP_998764.1:p.Thr557=
ENST00000324559.9:c.1671C>T MANE Select ENSP00000315371.9:p.Thr557=
NM_001142649.1:c.1668C>T NP_001136121.1:p.Thr556=
NM_001142649.2:c.1668C>T NP_001136121.1:p.Thr556=
NM_213599.2:c.1671C>T , LRG_868t1:c.1671C>T NP_998764.1:p.Thr557=
ENST00000324559.8:c.1671C>T ENSP00000315371.8:p.Thr557=
ENST00000648804.1:n.2006C>T
ENST00000682266.1:c.1221C>T ENSP00000507766.1:p.Thr407=
ENST00000682341.1:c.1629C>T ENSP00000508251.1:p.Thr543=
ENST00000683197.1:c.1629C>T ENSP00000507641.1:p.Thr543=
ENST00000683411.1:c.1221C>T ENSP00000508397.1:p.Thr407=
ENST00000683437.1:c.1221C>T ENSP00000508408.1:p.Thr407=
ENST00000683613.1:n.2665C>T
ENST00000684663.1:c.1626C>T ENSP00000508009.1:p.Thr542=
XM_005252820.2:c.1629C>T XP_005252877.2:p.Thr543=
XM_005252820.3:c.1629C>T XP_005252877.2:p.Thr543=
XM_005252821.2:c.1626C>T XP_005252878.2:p.Thr542=
XM_005252821.3:c.1626C>T XP_005252878.2:p.Thr542=
XM_005252822.3:c.1593C>T XP_005252879.1:p.Thr531=
XM_005252822.4:c.1593C>T XP_005252879.1:p.Thr531=
XM_005252823.3:c.1590C>T XP_005252880.1:p.Thr530=
XM_011519949.1:c.1578C>T XP_011518251.1:p.Thr526=
XM_011519949.2:c.1578C>T XP_011518251.1:p.Thr526=