Canonical Allele Identifier: CA1957408489
Community Standard Title: NM_213599.3(ANO5):c.2498T= (p.Met833=)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22276177T= , CM000673.2:g.22276177T= GRCh38
NC_000011.9:g.22297723T= , CM000673.1:g.22297723T= GRCh37
NC_000011.8:g.22254299T= NCBI36
NG_015844.1:g.88002T= , LRG_868:g.88002T=

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.2498T= MANE Select NP_998764.1:p.Met833=
ENST00000324559.9:c.2498T= MANE Select ENSP00000315371.9:p.Met833=
NM_001142649.1:c.2495T= NP_001136121.1:p.Met832=
NM_001142649.2:c.2495T= NP_001136121.1:p.Met832=
NM_213599.2:c.2498T= , LRG_868t1:c.2498T= NP_998764.1:p.Met833=
ENST00000324559.8:c.2498T= ENSP00000315371.8:p.Met833=
ENST00000532043.1:n.515T=
ENST00000532043.2:n.515T=
ENST00000648804.1:n.2833T=
ENST00000682266.1:c.2048T= ENSP00000507766.1:p.Met683=
ENST00000682341.1:c.2456T= ENSP00000508251.1:p.Met819=
ENST00000683197.1:c.2372+1430T= ENSP00000507641.1:n.2372+1430T=
ENST00000683411.1:c.2048T= ENSP00000508397.1:p.Met683=
ENST00000683437.1:c.2048T= ENSP00000508408.1:p.Met683=
ENST00000683613.1:n.3492T=
ENST00000684663.1:c.2453T= ENSP00000508009.1:p.Met818=
XM_005252820.2:c.2456T= XP_005252877.2:p.Met819=
XM_005252820.3:c.2456T= XP_005252877.2:p.Met819=
XM_005252821.2:c.2453T= XP_005252878.2:p.Met818=
XM_005252821.3:c.2453T= XP_005252878.2:p.Met818=
XM_005252822.3:c.2420T= XP_005252879.1:p.Met807=
XM_005252822.4:c.2420T= XP_005252879.1:p.Met807=
XM_005252823.3:c.2417T= XP_005252880.1:p.Met806=
XM_011519949.1:c.2405T= XP_011518251.1:p.Met802=
XM_011519949.2:c.2405T= XP_011518251.1:p.Met802=