Canonical Allele Identifier: CA5923271

Gene: ANO5

Linked Data

• dbSNP Id: rs746548151
• ExAC: 11:22281152 G / C
• gnomAD v2: 11-22281152-G-C
• gnomAD v4: 11-22259606-G-C
• MyVariant Identifiers: chr11:g.22281152G>C (hg19) ; chr11:g.22259606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259606G>C , CM000673.2:g.22259606G>C	GRCh38
NC_000011.9:g.22281152G>C , CM000673.1:g.22281152G>C	GRCh37
NC_000011.8:g.22237728G>C	NCBI36
NG_015844.1:g.71431G>C , LRG_868:g.71431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1045G>C	ENSP00000507766.1:p.Ala349Pro
ENST00000682341.1:c.1453G>C	ENSP00000508251.1:p.Ala485Pro
ENST00000683197.1:c.1453G>C	ENSP00000507641.1:p.Ala485Pro
ENST00000683411.1:c.1045G>C	ENSP00000508397.1:p.Ala349Pro
ENST00000683437.1:c.1045G>C	ENSP00000508408.1:p.Ala349Pro
ENST00000683613.1:n.2489G>C
ENST00000684663.1:c.1450G>C	ENSP00000508009.1:p.Ala484Pro
ENST00000324559.9:c.1495G>C MANE Select	ENSP00000315371.9:p.Ala499Pro
ENST00000648804.1:n.1830G>C
ENST00000324559.8:c.1495G>C	ENSP00000315371.8:p.Ala499Pro
NM_001142649.1:c.1492G>C	NP_001136121.1:p.Ala498Pro
NM_213599.2:c.1495G>C , LRG_868t1:c.1495G>C	NP_998764.1:p.Ala499Pro
XM_005252820.2:c.1453G>C	XP_005252877.2:p.Ala485Pro
XM_005252821.2:c.1450G>C	XP_005252878.2:p.Ala484Pro
XM_005252822.3:c.1417G>C	XP_005252879.1:p.Ala473Pro
XM_005252823.3:c.1414G>C	XP_005252880.1:p.Ala472Pro
XM_011519949.1:c.1402G>C	XP_011518251.1:p.Ala468Pro
XM_005252820.3:c.1453G>C	XP_005252877.2:p.Ala485Pro
XM_005252821.3:c.1450G>C	XP_005252878.2:p.Ala484Pro
XM_005252822.4:c.1417G>C	XP_005252879.1:p.Ala473Pro
XM_011519949.2:c.1402G>C	XP_011518251.1:p.Ala468Pro
NM_001142649.2:c.1492G>C	NP_001136121.1:p.Ala498Pro
NM_213599.3:c.1495G>C MANE Select	NP_998764.1:p.Ala499Pro