Canonical Allele Identifier: CA379920638

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271785A>T (hg19) ; chr11:g.22250239A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250239A>T , CM000673.2:g.22250239A>T	GRCh38
NC_000011.9:g.22271785A>T , CM000673.1:g.22271785A>T	GRCh37
NC_000011.8:g.22228361A>T	NCBI36
NG_015844.1:g.62064A>T , LRG_868:g.62064A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.201A>T
ENST00000682266.1:c.431A>T	ENSP00000507766.1:p.Asn144Ile
ENST00000682341.1:c.839A>T	ENSP00000508251.1:p.Asn280Ile
ENST00000682530.1:c.*813A>T	ENSP00000506805.1:n.*813A>T
ENST00000683197.1:c.839A>T	ENSP00000507641.1:p.Asn280Ile
ENST00000683411.1:c.431A>T	ENSP00000508397.1:p.Asn144Ile
ENST00000683437.1:c.431A>T	ENSP00000508408.1:p.Asn144Ile
ENST00000683613.1:n.1875A>T
ENST00000683834.1:n.1081A>T
ENST00000684663.1:c.836A>T	ENSP00000508009.1:p.Asn279Ile
ENST00000324559.9:c.881A>T MANE Select	ENSP00000315371.9:p.Asn294Ile
ENST00000648804.1:n.1216A>T
ENST00000324559.8:c.881A>T	ENSP00000315371.8:p.Asn294Ile
NM_001142649.1:c.878A>T	NP_001136121.1:p.Asn293Ile
NM_213599.2:c.881A>T , LRG_868t1:c.881A>T	NP_998764.1:p.Asn294Ile
XM_005252820.2:c.839A>T	XP_005252877.2:p.Asn280Ile
XM_005252821.2:c.836A>T	XP_005252878.2:p.Asn279Ile
XM_005252822.3:c.803A>T	XP_005252879.1:p.Asn268Ile
XM_005252823.3:c.800A>T	XP_005252880.1:p.Asn267Ile
XM_011519949.1:c.788A>T	XP_011518251.1:p.Asn263Ile
XM_005252820.3:c.839A>T	XP_005252877.2:p.Asn280Ile
XM_005252821.3:c.836A>T	XP_005252878.2:p.Asn279Ile
XM_005252822.4:c.803A>T	XP_005252879.1:p.Asn268Ile
XM_011519949.2:c.788A>T	XP_011518251.1:p.Asn263Ile
NM_001142649.2:c.878A>T	NP_001136121.1:p.Asn293Ile
NM_213599.3:c.881A>T MANE Select	NP_998764.1:p.Asn294Ile