Canonical Allele Identifier: CA1957419848
Community Standard Title: NM_213599.3(ANO5):c.1733T= (p.Phe578=)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22262231T= , CM000673.2:g.22262231T= GRCh38
NC_000011.9:g.22283777T= , CM000673.1:g.22283777T= GRCh37
NC_000011.8:g.22240353T= NCBI36
NG_015844.1:g.74056T= , LRG_868:g.74056T=

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.1733T= MANE Select NP_998764.1:p.Phe578=
ENST00000324559.9:c.1733T= MANE Select ENSP00000315371.9:p.Phe578=
NM_001142649.1:c.1730T= NP_001136121.1:p.Phe577=
NM_001142649.2:c.1730T= NP_001136121.1:p.Phe577=
NM_213599.2:c.1733T= , LRG_868t1:c.1733T= NP_998764.1:p.Phe578=
ENST00000324559.8:c.1733T= ENSP00000315371.8:p.Phe578=
ENST00000648804.1:n.2068T=
ENST00000682266.1:c.1283T= ENSP00000507766.1:p.Phe428=
ENST00000682341.1:c.1691T= ENSP00000508251.1:p.Phe564=
ENST00000683197.1:c.1691T= ENSP00000507641.1:p.Phe564=
ENST00000683411.1:c.1283T= ENSP00000508397.1:p.Phe428=
ENST00000683437.1:c.1283T= ENSP00000508408.1:p.Phe428=
ENST00000683613.1:n.2727T=
ENST00000684663.1:c.1688T= ENSP00000508009.1:p.Phe563=
XM_005252820.2:c.1691T= XP_005252877.2:p.Phe564=
XM_005252820.3:c.1691T= XP_005252877.2:p.Phe564=
XM_005252821.2:c.1688T= XP_005252878.2:p.Phe563=
XM_005252821.3:c.1688T= XP_005252878.2:p.Phe563=
XM_005252822.3:c.1655T= XP_005252879.1:p.Phe552=
XM_005252822.4:c.1655T= XP_005252879.1:p.Phe552=
XM_005252823.3:c.1652T= XP_005252880.1:p.Phe551=
XM_011519949.1:c.1640T= XP_011518251.1:p.Phe547=
XM_011519949.2:c.1640T= XP_011518251.1:p.Phe547=