Canonical Allele Identifier: CA5923197
Community Standard Title: NM_213599.3(ANO5):c.1332G>A (p.Lys444=)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22255522G>A , CM000673.2:g.22255522G>A GRCh38
NC_000011.9:g.22277068G>A , CM000673.1:g.22277068G>A GRCh37
NC_000011.8:g.22233644G>A NCBI36
NG_015844.1:g.67347G>A , LRG_868:g.67347G>A

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.1332G>A MANE Select NP_998764.1:p.Lys444=
ENST00000324559.9:c.1332G>A MANE Select ENSP00000315371.9:p.Lys444=
NM_001142649.1:c.1329G>A NP_001136121.1:p.Lys443=
NM_001142649.2:c.1329G>A NP_001136121.1:p.Lys443=
NM_213599.2:c.1332G>A , LRG_868t1:c.1332G>A NP_998764.1:p.Lys444=
ENST00000324559.8:c.1332G>A ENSP00000315371.8:p.Lys444=
ENST00000648804.1:n.1667G>A
ENST00000682089.1:n.652G>A
ENST00000682266.1:c.882G>A ENSP00000507766.1:p.Lys294=
ENST00000682341.1:c.1290G>A ENSP00000508251.1:p.Lys430=
ENST00000682530.1:c.*1264G>A ENSP00000506805.1:n.*1264G>A
ENST00000683197.1:c.1290G>A ENSP00000507641.1:p.Lys430=
ENST00000683411.1:c.882G>A ENSP00000508397.1:p.Lys294=
ENST00000683437.1:c.882G>A ENSP00000508408.1:p.Lys294=
ENST00000683613.1:n.2326G>A
ENST00000683834.1:n.1532G>A
ENST00000684663.1:c.1287G>A ENSP00000508009.1:p.Lys429=
XM_005252820.2:c.1290G>A XP_005252877.2:p.Lys430=
XM_005252820.3:c.1290G>A XP_005252877.2:p.Lys430=
XM_005252821.2:c.1287G>A XP_005252878.2:p.Lys429=
XM_005252821.3:c.1287G>A XP_005252878.2:p.Lys429=
XM_005252822.3:c.1254G>A XP_005252879.1:p.Lys418=
XM_005252822.4:c.1254G>A XP_005252879.1:p.Lys418=
XM_005252823.3:c.1251G>A XP_005252880.1:p.Lys417=
XM_011519949.1:c.1239G>A XP_011518251.1:p.Lys413=
XM_011519949.2:c.1239G>A XP_011518251.1:p.Lys413=