Canonical Allele Identifier: CA144627
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 60689
ClinVar RCV Id: RCV000054502
dbSNP Id: rs397514736

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22259652C>T , CM000673.2:g.22259652C>T GRCh38
NC_000011.9:g.22281198C>T , CM000673.1:g.22281198C>T GRCh37
NC_000011.8:g.22237774C>T NCBI36
NG_015844.1:g.71477C>T , LRG_868:g.71477C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324559.9:c.1541C>T MANE Select ENSP00000315371.9:p.Thr514Ile
ENST00000648804.1:n.1876C>T
ENST00000324559.8:c.1541C>T ENSP00000315371.8:p.Thr514Ile
NM_001142649.1:c.1538C>T NP_001136121.1:p.Thr513Ile
NM_213599.2:c.1541C>T , LRG_868t1:c.1541C>T NP_998764.1:p.Thr514Ile
XM_005252820.2:c.1499C>T XP_005252877.2:p.Thr500Ile
XM_005252821.2:c.1496C>T XP_005252878.2:p.Thr499Ile
XM_005252822.3:c.1463C>T XP_005252879.1:p.Thr488Ile
XM_005252823.3:c.1460C>T XP_005252880.1:p.Thr487Ile
XM_011519949.1:c.1448C>T XP_011518251.1:p.Thr483Ile
XM_005252820.3:c.1499C>T XP_005252877.2:p.Thr500Ile
XM_005252821.3:c.1496C>T XP_005252878.2:p.Thr499Ile
XM_005252822.4:c.1463C>T XP_005252879.1:p.Thr488Ile
XM_011519949.2:c.1448C>T XP_011518251.1:p.Thr483Ile
NM_001142649.2:c.1538C>T NP_001136121.1:p.Thr513Ile
NM_213599.3:c.1541C>T MANE Select NP_998764.1:p.Thr514Ile