Canonical Allele Identifier: CA379923987

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294498T>C (hg19) ; chr11:g.22272952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272952T>C , CM000673.2:g.22272952T>C	GRCh38
NC_000011.9:g.22294498T>C , CM000673.1:g.22294498T>C	GRCh37
NC_000011.8:g.22251074T>C	NCBI36
NG_015844.1:g.84777T>C , LRG_868:g.84777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.215T>C
ENST00000682266.1:c.1748T>C	ENSP00000507766.1:p.Ile583Thr
ENST00000682341.1:c.2156T>C	ENSP00000508251.1:p.Ile719Thr
ENST00000683197.1:c.2156T>C	ENSP00000507641.1:p.Ile719Thr
ENST00000683411.1:c.1748T>C	ENSP00000508397.1:p.Ile583Thr
ENST00000683437.1:c.1748T>C	ENSP00000508408.1:p.Ile583Thr
ENST00000683613.1:n.3192T>C
ENST00000684663.1:c.2153T>C	ENSP00000508009.1:p.Ile718Thr
ENST00000324559.9:c.2198T>C MANE Select	ENSP00000315371.9:p.Ile733Thr
ENST00000648804.1:n.2533T>C
ENST00000324559.8:c.2198T>C	ENSP00000315371.8:p.Ile733Thr
ENST00000532043.1:n.215T>C
NM_001142649.1:c.2195T>C	NP_001136121.1:p.Ile732Thr
NM_213599.2:c.2198T>C , LRG_868t1:c.2198T>C	NP_998764.1:p.Ile733Thr
XM_005252820.2:c.2156T>C	XP_005252877.2:p.Ile719Thr
XM_005252821.2:c.2153T>C	XP_005252878.2:p.Ile718Thr
XM_005252822.3:c.2120T>C	XP_005252879.1:p.Ile707Thr
XM_005252823.3:c.2117T>C	XP_005252880.1:p.Ile706Thr
XM_011519949.1:c.2105T>C	XP_011518251.1:p.Ile702Thr
XM_005252820.3:c.2156T>C	XP_005252877.2:p.Ile719Thr
XM_005252821.3:c.2153T>C	XP_005252878.2:p.Ile718Thr
XM_005252822.4:c.2120T>C	XP_005252879.1:p.Ile707Thr
XM_011519949.2:c.2105T>C	XP_011518251.1:p.Ile702Thr
NM_001142649.2:c.2195T>C	NP_001136121.1:p.Ile732Thr
NM_213599.3:c.2198T>C MANE Select	NP_998764.1:p.Ile733Thr