Canonical Allele Identifier: CA379922357

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22281246A>C (hg19) ; chr11:g.22259700A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259700A>C , CM000673.2:g.22259700A>C	GRCh38
NC_000011.9:g.22281246A>C , CM000673.1:g.22281246A>C	GRCh37
NC_000011.8:g.22237822A>C	NCBI36
NG_015844.1:g.71525A>C , LRG_868:g.71525A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1139A>C	ENSP00000507766.1:p.Asn380Thr
ENST00000682341.1:c.1547A>C	ENSP00000508251.1:p.Asn516Thr
ENST00000683197.1:c.1547A>C	ENSP00000507641.1:p.Asn516Thr
ENST00000683411.1:c.1139A>C	ENSP00000508397.1:p.Asn380Thr
ENST00000683437.1:c.1139A>C	ENSP00000508408.1:p.Asn380Thr
ENST00000683613.1:n.2583A>C
ENST00000684663.1:c.1544A>C	ENSP00000508009.1:p.Asn515Thr
ENST00000324559.9:c.1589A>C MANE Select	ENSP00000315371.9:p.Asn530Thr
ENST00000648804.1:n.1924A>C
ENST00000324559.8:c.1589A>C	ENSP00000315371.8:p.Asn530Thr
NM_001142649.1:c.1586A>C	NP_001136121.1:p.Asn529Thr
NM_213599.2:c.1589A>C , LRG_868t1:c.1589A>C	NP_998764.1:p.Asn530Thr
XM_005252820.2:c.1547A>C	XP_005252877.2:p.Asn516Thr
XM_005252821.2:c.1544A>C	XP_005252878.2:p.Asn515Thr
XM_005252822.3:c.1511A>C	XP_005252879.1:p.Asn504Thr
XM_005252823.3:c.1508A>C	XP_005252880.1:p.Asn503Thr
XM_011519949.1:c.1496A>C	XP_011518251.1:p.Asn499Thr
XM_005252820.3:c.1547A>C	XP_005252877.2:p.Asn516Thr
XM_005252821.3:c.1544A>C	XP_005252878.2:p.Asn515Thr
XM_005252822.4:c.1511A>C	XP_005252879.1:p.Asn504Thr
XM_011519949.2:c.1496A>C	XP_011518251.1:p.Asn499Thr
NM_001142649.2:c.1586A>C	NP_001136121.1:p.Asn529Thr
NM_213599.3:c.1589A>C MANE Select	NP_998764.1:p.Asn530Thr