Canonical Allele Identifier: CA379923992
Gene: ANO5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22272955T>A , CM000673.2:g.22272955T>A GRCh38
NC_000011.9:g.22294501T>A , CM000673.1:g.22294501T>A GRCh37
NC_000011.8:g.22251077T>A NCBI36
NG_015844.1:g.84780T>A , LRG_868:g.84780T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000532043.2:n.218T>A
ENST00000682266.1:c.1751T>A ENSP00000507766.1:p.Leu584His
ENST00000682341.1:c.2159T>A ENSP00000508251.1:p.Leu720His
ENST00000683197.1:c.2159T>A ENSP00000507641.1:p.Leu720His
ENST00000683411.1:c.1751T>A ENSP00000508397.1:p.Leu584His
ENST00000683437.1:c.1751T>A ENSP00000508408.1:p.Leu584His
ENST00000683613.1:n.3195T>A
ENST00000684663.1:c.2156T>A ENSP00000508009.1:p.Leu719His
ENST00000324559.9:c.2201T>A MANE Select ENSP00000315371.9:p.Leu734His
ENST00000648804.1:n.2536T>A
ENST00000324559.8:c.2201T>A ENSP00000315371.8:p.Leu734His
ENST00000532043.1:n.218T>A
NM_001142649.1:c.2198T>A NP_001136121.1:p.Leu733His
NM_213599.2:c.2201T>A , LRG_868t1:c.2201T>A NP_998764.1:p.Leu734His
XM_005252820.2:c.2159T>A XP_005252877.2:p.Leu720His
XM_005252821.2:c.2156T>A XP_005252878.2:p.Leu719His
XM_005252822.3:c.2123T>A XP_005252879.1:p.Leu708His
XM_005252823.3:c.2120T>A XP_005252880.1:p.Leu707His
XM_011519949.1:c.2108T>A XP_011518251.1:p.Leu703His
XM_005252820.3:c.2159T>A XP_005252877.2:p.Leu720His
XM_005252821.3:c.2156T>A XP_005252878.2:p.Leu719His
XM_005252822.4:c.2123T>A XP_005252879.1:p.Leu708His
XM_011519949.2:c.2108T>A XP_011518251.1:p.Leu703His
NM_001142649.2:c.2198T>A NP_001136121.1:p.Leu733His
NM_213599.3:c.2201T>A MANE Select NP_998764.1:p.Leu734His