Canonical Allele Identifier: CA379923260

Gene: ANO5

Linked Data

• gnomAD v4: 11-22270327-G-T
• COSMIC: COSM6250452
• MyVariant Identifiers: chr11:g.22291873G>T (hg19) ; chr11:g.22270327G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1464G>T	ENSP00000507766.1:p.Trp488Cys
ENST00000682341.1:c.1872G>T	ENSP00000508251.1:p.Trp624Cys
ENST00000683197.1:c.1872G>T	ENSP00000507641.1:p.Trp624Cys
ENST00000683411.1:c.1464G>T	ENSP00000508397.1:p.Trp488Cys
ENST00000683437.1:c.1464G>T	ENSP00000508408.1:p.Trp488Cys
ENST00000683613.1:n.2908G>T
ENST00000684663.1:c.1869G>T	ENSP00000508009.1:p.Trp623Cys
ENST00000324559.9:c.1914G>T MANE Select	ENSP00000315371.9:p.Trp638Cys
ENST00000648804.1:n.2249G>T
ENST00000324559.8:c.1914G>T	ENSP00000315371.8:p.Trp638Cys
NM_001142649.1:c.1911G>T	NP_001136121.1:p.Trp637Cys
NM_213599.2:c.1914G>T , LRG_868t1:c.1914G>T	NP_998764.1:p.Trp638Cys
XM_005252820.2:c.1872G>T	XP_005252877.2:p.Trp624Cys
XM_005252821.2:c.1869G>T	XP_005252878.2:p.Trp623Cys
XM_005252822.3:c.1836G>T	XP_005252879.1:p.Trp612Cys
XM_005252823.3:c.1833G>T	XP_005252880.1:p.Trp611Cys
XM_011519949.1:c.1821G>T	XP_011518251.1:p.Trp607Cys
XM_005252820.3:c.1872G>T	XP_005252877.2:p.Trp624Cys
XM_005252821.3:c.1869G>T	XP_005252878.2:p.Trp623Cys
XM_005252822.4:c.1836G>T	XP_005252879.1:p.Trp612Cys
XM_011519949.2:c.1821G>T	XP_011518251.1:p.Trp607Cys
NM_001142649.2:c.1911G>T	NP_001136121.1:p.Trp637Cys
NM_213599.3:c.1914G>T MANE Select	NP_998764.1:p.Trp638Cys