Canonical Allele Identifier: CA379923252

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22291871T>A (hg19) ; chr11:g.22270325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22270325T>A , CM000673.2:g.22270325T>A	GRCh38
NC_000011.9:g.22291871T>A , CM000673.1:g.22291871T>A	GRCh37
NC_000011.8:g.22248447T>A	NCBI36
NG_015844.1:g.82150T>A , LRG_868:g.82150T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1462T>A	ENSP00000507766.1:p.Trp488Arg
ENST00000682341.1:c.1870T>A	ENSP00000508251.1:p.Trp624Arg
ENST00000683197.1:c.1870T>A	ENSP00000507641.1:p.Trp624Arg
ENST00000683411.1:c.1462T>A	ENSP00000508397.1:p.Trp488Arg
ENST00000683437.1:c.1462T>A	ENSP00000508408.1:p.Trp488Arg
ENST00000683613.1:n.2906T>A
ENST00000684663.1:c.1867T>A	ENSP00000508009.1:p.Trp623Arg
ENST00000324559.9:c.1912T>A MANE Select	ENSP00000315371.9:p.Trp638Arg
ENST00000648804.1:n.2247T>A
ENST00000324559.8:c.1912T>A	ENSP00000315371.8:p.Trp638Arg
NM_001142649.1:c.1909T>A	NP_001136121.1:p.Trp637Arg
NM_213599.2:c.1912T>A , LRG_868t1:c.1912T>A	NP_998764.1:p.Trp638Arg
XM_005252820.2:c.1870T>A	XP_005252877.2:p.Trp624Arg
XM_005252821.2:c.1867T>A	XP_005252878.2:p.Trp623Arg
XM_005252822.3:c.1834T>A	XP_005252879.1:p.Trp612Arg
XM_005252823.3:c.1831T>A	XP_005252880.1:p.Trp611Arg
XM_011519949.1:c.1819T>A	XP_011518251.1:p.Trp607Arg
XM_005252820.3:c.1870T>A	XP_005252877.2:p.Trp624Arg
XM_005252821.3:c.1867T>A	XP_005252878.2:p.Trp623Arg
XM_005252822.4:c.1834T>A	XP_005252879.1:p.Trp612Arg
XM_011519949.2:c.1819T>A	XP_011518251.1:p.Trp607Arg
NM_001142649.2:c.1909T>A	NP_001136121.1:p.Trp637Arg
NM_213599.3:c.1912T>A MANE Select	NP_998764.1:p.Trp638Arg