Canonical Allele Identifier: CA379920658

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271793G>C (hg19) ; chr11:g.22250247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250247G>C , CM000673.2:g.22250247G>C	GRCh38
NC_000011.9:g.22271793G>C , CM000673.1:g.22271793G>C	GRCh37
NC_000011.8:g.22228369G>C	NCBI36
NG_015844.1:g.62072G>C , LRG_868:g.62072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.209G>C
ENST00000682266.1:c.439G>C	ENSP00000507766.1:p.Gly147Arg
ENST00000682341.1:c.847G>C	ENSP00000508251.1:p.Gly283Arg
ENST00000682530.1:c.*821G>C	ENSP00000506805.1:n.*821G>C
ENST00000683197.1:c.847G>C	ENSP00000507641.1:p.Gly283Arg
ENST00000683411.1:c.439G>C	ENSP00000508397.1:p.Gly147Arg
ENST00000683437.1:c.439G>C	ENSP00000508408.1:p.Gly147Arg
ENST00000683613.1:n.1883G>C
ENST00000683834.1:n.1089G>C
ENST00000684663.1:c.844G>C	ENSP00000508009.1:p.Gly282Arg
ENST00000324559.9:c.889G>C MANE Select	ENSP00000315371.9:p.Gly297Arg
ENST00000648804.1:n.1224G>C
ENST00000324559.8:c.889G>C	ENSP00000315371.8:p.Gly297Arg
NM_001142649.1:c.886G>C	NP_001136121.1:p.Gly296Arg
NM_213599.2:c.889G>C , LRG_868t1:c.889G>C	NP_998764.1:p.Gly297Arg
XM_005252820.2:c.847G>C	XP_005252877.2:p.Gly283Arg
XM_005252821.2:c.844G>C	XP_005252878.2:p.Gly282Arg
XM_005252822.3:c.811G>C	XP_005252879.1:p.Gly271Arg
XM_005252823.3:c.808G>C	XP_005252880.1:p.Gly270Arg
XM_011519949.1:c.796G>C	XP_011518251.1:p.Gly266Arg
XM_005252820.3:c.847G>C	XP_005252877.2:p.Gly283Arg
XM_005252821.3:c.844G>C	XP_005252878.2:p.Gly282Arg
XM_005252822.4:c.811G>C	XP_005252879.1:p.Gly271Arg
XM_011519949.2:c.796G>C	XP_011518251.1:p.Gly266Arg
NM_001142649.2:c.886G>C	NP_001136121.1:p.Gly296Arg
NM_213599.3:c.889G>C MANE Select	NP_998764.1:p.Gly297Arg