Canonical Allele Identifier: CA379919158

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22247580G>C (hg19) ; chr11:g.22226034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22226034G>C , CM000673.2:g.22226034G>C	GRCh38
NC_000011.9:g.22247580G>C , CM000673.1:g.22247580G>C	GRCh37
NC_000011.8:g.22204156G>C	NCBI36
NG_015844.1:g.37859G>C , LRG_868:g.37859G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-106G>C	ENSP00000507766.1:n.-106G>C
ENST00000682341.1:c.303G>C	ENSP00000508251.1:p.Leu101Phe
ENST00000682530.1:c.*277G>C	ENSP00000506805.1:n.*277G>C
ENST00000682684.1:n.724G>C
ENST00000683197.1:c.303G>C	ENSP00000507641.1:p.Leu101Phe
ENST00000683411.1:c.-106G>C	ENSP00000508397.1:n.-106G>C
ENST00000683437.1:c.-106G>C	ENSP00000508408.1:n.-106G>C
ENST00000683613.1:n.1339G>C
ENST00000683834.1:n.545G>C
ENST00000684663.1:c.300G>C	ENSP00000508009.1:p.Leu100Phe
ENST00000324559.9:c.345G>C MANE Select	ENSP00000315371.9:p.Leu115Phe
ENST00000648804.1:n.910G>C
ENST00000324559.8:c.345G>C	ENSP00000315371.8:p.Leu115Phe
NM_001142649.1:c.342G>C	NP_001136121.1:p.Leu114Phe
NM_213599.2:c.345G>C , LRG_868t1:c.345G>C	NP_998764.1:p.Leu115Phe
XM_005252820.2:c.303G>C	XP_005252877.2:p.Leu101Phe
XM_005252821.2:c.300G>C	XP_005252878.2:p.Leu100Phe
XM_005252822.3:c.267G>C	XP_005252879.1:p.Leu89Phe
XM_005252823.3:c.264G>C	XP_005252880.1:p.Leu88Phe
XM_011519949.1:c.252G>C	XP_011518251.1:p.Leu84Phe
XM_005252820.3:c.303G>C	XP_005252877.2:p.Leu101Phe
XM_005252821.3:c.300G>C	XP_005252878.2:p.Leu100Phe
XM_005252822.4:c.267G>C	XP_005252879.1:p.Leu89Phe
XM_011519949.2:c.252G>C	XP_011518251.1:p.Leu84Phe
NM_001142649.2:c.342G>C	NP_001136121.1:p.Leu114Phe
NM_213599.3:c.345G>C MANE Select	NP_998764.1:p.Leu115Phe