Canonical Allele Identifier: CA379923258

Gene: ANO5

Linked Data

• gnomAD v4: 11-22270327-G-A
• MyVariant Identifiers: chr11:g.22291873G>A (hg19) ; chr11:g.22270327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22270327G>A , CM000673.2:g.22270327G>A	GRCh38
NC_000011.9:g.22291873G>A , CM000673.1:g.22291873G>A	GRCh37
NC_000011.8:g.22248449G>A	NCBI36
NG_015844.1:g.82152G>A , LRG_868:g.82152G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1464G>A	ENSP00000507766.1:p.Trp488Ter
ENST00000682341.1:c.1872G>A	ENSP00000508251.1:p.Trp624Ter
ENST00000683197.1:c.1872G>A	ENSP00000507641.1:p.Trp624Ter
ENST00000683411.1:c.1464G>A	ENSP00000508397.1:p.Trp488Ter
ENST00000683437.1:c.1464G>A	ENSP00000508408.1:p.Trp488Ter
ENST00000683613.1:n.2908G>A
ENST00000684663.1:c.1869G>A	ENSP00000508009.1:p.Trp623Ter
ENST00000324559.9:c.1914G>A MANE Select	ENSP00000315371.9:p.Trp638Ter
ENST00000648804.1:n.2249G>A
ENST00000324559.8:c.1914G>A	ENSP00000315371.8:p.Trp638Ter
NM_001142649.1:c.1911G>A	NP_001136121.1:p.Trp637Ter
NM_213599.2:c.1914G>A , LRG_868t1:c.1914G>A	NP_998764.1:p.Trp638Ter
XM_005252820.2:c.1872G>A	XP_005252877.2:p.Trp624Ter
XM_005252821.2:c.1869G>A	XP_005252878.2:p.Trp623Ter
XM_005252822.3:c.1836G>A	XP_005252879.1:p.Trp612Ter
XM_005252823.3:c.1833G>A	XP_005252880.1:p.Trp611Ter
XM_011519949.1:c.1821G>A	XP_011518251.1:p.Trp607Ter
XM_005252820.3:c.1872G>A	XP_005252877.2:p.Trp624Ter
XM_005252821.3:c.1869G>A	XP_005252878.2:p.Trp623Ter
XM_005252822.4:c.1836G>A	XP_005252879.1:p.Trp612Ter
XM_011519949.2:c.1821G>A	XP_011518251.1:p.Trp607Ter
NM_001142649.2:c.1911G>A	NP_001136121.1:p.Trp637Ter
NM_213599.3:c.1914G>A MANE Select	NP_998764.1:p.Trp638Ter