Canonical Allele Identifier: CA379923956

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294486T>C (hg19) ; chr11:g.22272940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272940T>C , CM000673.2:g.22272940T>C	GRCh38
NC_000011.9:g.22294486T>C , CM000673.1:g.22294486T>C	GRCh37
NC_000011.8:g.22251062T>C	NCBI36
NG_015844.1:g.84765T>C , LRG_868:g.84765T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.203T>C
ENST00000682266.1:c.1736T>C	ENSP00000507766.1:p.Val579Ala
ENST00000682341.1:c.2144T>C	ENSP00000508251.1:p.Val715Ala
ENST00000683197.1:c.2144T>C	ENSP00000507641.1:p.Val715Ala
ENST00000683411.1:c.1736T>C	ENSP00000508397.1:p.Val579Ala
ENST00000683437.1:c.1736T>C	ENSP00000508408.1:p.Val579Ala
ENST00000683613.1:n.3180T>C
ENST00000684663.1:c.2141T>C	ENSP00000508009.1:p.Val714Ala
ENST00000324559.9:c.2186T>C MANE Select	ENSP00000315371.9:p.Val729Ala
ENST00000648804.1:n.2521T>C
ENST00000324559.8:c.2186T>C	ENSP00000315371.8:p.Val729Ala
ENST00000532043.1:n.203T>C
NM_001142649.1:c.2183T>C	NP_001136121.1:p.Val728Ala
NM_213599.2:c.2186T>C , LRG_868t1:c.2186T>C	NP_998764.1:p.Val729Ala
XM_005252820.2:c.2144T>C	XP_005252877.2:p.Val715Ala
XM_005252821.2:c.2141T>C	XP_005252878.2:p.Val714Ala
XM_005252822.3:c.2108T>C	XP_005252879.1:p.Val703Ala
XM_005252823.3:c.2105T>C	XP_005252880.1:p.Val702Ala
XM_011519949.1:c.2093T>C	XP_011518251.1:p.Val698Ala
XM_005252820.3:c.2144T>C	XP_005252877.2:p.Val715Ala
XM_005252821.3:c.2141T>C	XP_005252878.2:p.Val714Ala
XM_005252822.4:c.2108T>C	XP_005252879.1:p.Val703Ala
XM_011519949.2:c.2093T>C	XP_011518251.1:p.Val698Ala
NM_001142649.2:c.2183T>C	NP_001136121.1:p.Val728Ala
NM_213599.3:c.2186T>C MANE Select	NP_998764.1:p.Val729Ala