Canonical Allele Identifier: CA379921420

Gene: ANO5

Linked Data

• gnomAD v4: 11-22255404-A-C
• MyVariant Identifiers: chr11:g.22276950A>C (hg19) ; chr11:g.22255404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255404A>C , CM000673.2:g.22255404A>C	GRCh38
NC_000011.9:g.22276950A>C , CM000673.1:g.22276950A>C	GRCh37
NC_000011.8:g.22233526A>C	NCBI36
NG_015844.1:g.67229A>C , LRG_868:g.67229A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.534A>C
ENST00000682266.1:c.764A>C	ENSP00000507766.1:p.Gln255Pro
ENST00000682341.1:c.1172A>C	ENSP00000508251.1:p.Gln391Pro
ENST00000682530.1:c.*1146A>C	ENSP00000506805.1:n.*1146A>C
ENST00000683197.1:c.1172A>C	ENSP00000507641.1:p.Gln391Pro
ENST00000683411.1:c.764A>C	ENSP00000508397.1:p.Gln255Pro
ENST00000683437.1:c.764A>C	ENSP00000508408.1:p.Gln255Pro
ENST00000683613.1:n.2208A>C
ENST00000683834.1:n.1414A>C
ENST00000684663.1:c.1169A>C	ENSP00000508009.1:p.Gln390Pro
ENST00000324559.9:c.1214A>C MANE Select	ENSP00000315371.9:p.Gln405Pro
ENST00000648804.1:n.1549A>C
ENST00000324559.8:c.1214A>C	ENSP00000315371.8:p.Gln405Pro
NM_001142649.1:c.1211A>C	NP_001136121.1:p.Gln404Pro
NM_213599.2:c.1214A>C , LRG_868t1:c.1214A>C	NP_998764.1:p.Gln405Pro
XM_005252820.2:c.1172A>C	XP_005252877.2:p.Gln391Pro
XM_005252821.2:c.1169A>C	XP_005252878.2:p.Gln390Pro
XM_005252822.3:c.1136A>C	XP_005252879.1:p.Gln379Pro
XM_005252823.3:c.1133A>C	XP_005252880.1:p.Gln378Pro
XM_011519949.1:c.1121A>C	XP_011518251.1:p.Gln374Pro
XM_005252820.3:c.1172A>C	XP_005252877.2:p.Gln391Pro
XM_005252821.3:c.1169A>C	XP_005252878.2:p.Gln390Pro
XM_005252822.4:c.1136A>C	XP_005252879.1:p.Gln379Pro
XM_011519949.2:c.1121A>C	XP_011518251.1:p.Gln374Pro
NM_001142649.2:c.1211A>C	NP_001136121.1:p.Gln404Pro
NM_213599.3:c.1214A>C MANE Select	NP_998764.1:p.Gln405Pro