Canonical Allele Identifier: CA379920886

Gene: ANO5

Linked Data

• gnomAD v4: 11-22250353-T-C
• MyVariant Identifiers: chr11:g.22271899T>C (hg19) ; chr11:g.22250353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250353T>C , CM000673.2:g.22250353T>C	GRCh38
NC_000011.9:g.22271899T>C , CM000673.1:g.22271899T>C	GRCh37
NC_000011.8:g.22228475T>C	NCBI36
NG_015844.1:g.62178T>C , LRG_868:g.62178T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.315T>C
ENST00000682266.1:c.545T>C	ENSP00000507766.1:p.Met182Thr
ENST00000682341.1:c.953T>C	ENSP00000508251.1:p.Met318Thr
ENST00000682530.1:c.*927T>C	ENSP00000506805.1:n.*927T>C
ENST00000683197.1:c.953T>C	ENSP00000507641.1:p.Met318Thr
ENST00000683411.1:c.545T>C	ENSP00000508397.1:p.Met182Thr
ENST00000683437.1:c.545T>C	ENSP00000508408.1:p.Met182Thr
ENST00000683613.1:n.1989T>C
ENST00000683834.1:n.1195T>C
ENST00000684663.1:c.950T>C	ENSP00000508009.1:p.Met317Thr
ENST00000324559.9:c.995T>C MANE Select	ENSP00000315371.9:p.Met332Thr
ENST00000648804.1:n.1330T>C
ENST00000324559.8:c.995T>C	ENSP00000315371.8:p.Met332Thr
NM_001142649.1:c.992T>C	NP_001136121.1:p.Met331Thr
NM_213599.2:c.995T>C , LRG_868t1:c.995T>C	NP_998764.1:p.Met332Thr
XM_005252820.2:c.953T>C	XP_005252877.2:p.Met318Thr
XM_005252821.2:c.950T>C	XP_005252878.2:p.Met317Thr
XM_005252822.3:c.917T>C	XP_005252879.1:p.Met306Thr
XM_005252823.3:c.914T>C	XP_005252880.1:p.Met305Thr
XM_011519949.1:c.902T>C	XP_011518251.1:p.Met301Thr
XM_005252820.3:c.953T>C	XP_005252877.2:p.Met318Thr
XM_005252821.3:c.950T>C	XP_005252878.2:p.Met317Thr
XM_005252822.4:c.917T>C	XP_005252879.1:p.Met306Thr
XM_011519949.2:c.902T>C	XP_011518251.1:p.Met301Thr
NM_001142649.2:c.992T>C	NP_001136121.1:p.Met331Thr
NM_213599.3:c.995T>C MANE Select	NP_998764.1:p.Met332Thr