Canonical Allele Identifier: CA10607100
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 291313
ClinVar RCV Id: RCV000393148
dbSNP Id: rs886044915

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22236272A>C , CM000673.2:g.22236272A>C GRCh38
NC_000011.9:g.22257818A>C , CM000673.1:g.22257818A>C GRCh37
NC_000011.8:g.22214394A>C NCBI36
NG_015844.1:g.48097A>C , LRG_868:g.48097A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682266.1:c.308A>C ENSP00000507766.1:p.His103Pro
ENST00000682341.1:c.716A>C ENSP00000508251.1:p.His239Pro
ENST00000682530.1:c.*690A>C ENSP00000506805.1:n.*690A>C
ENST00000682684.1:n.1137A>C
ENST00000683197.1:c.716A>C ENSP00000507641.1:p.His239Pro
ENST00000683411.1:c.308A>C ENSP00000508397.1:p.His103Pro
ENST00000683437.1:c.308A>C ENSP00000508408.1:p.His103Pro
ENST00000683613.1:n.1752A>C
ENST00000683834.1:n.958A>C
ENST00000684663.1:c.713A>C ENSP00000508009.1:p.His238Pro
ENST00000324559.9:c.758A>C MANE Select ENSP00000315371.9:p.His253Pro
ENST00000648804.1:n.1213+8686A>C
ENST00000324559.8:c.758A>C ENSP00000315371.8:p.His253Pro
NM_001142649.1:c.755A>C NP_001136121.1:p.His252Pro
NM_213599.2:c.758A>C , LRG_868t1:c.758A>C NP_998764.1:p.His253Pro
XM_005252820.2:c.716A>C XP_005252877.2:p.His239Pro
XM_005252821.2:c.713A>C XP_005252878.2:p.His238Pro
XM_005252822.3:c.680A>C XP_005252879.1:p.His227Pro
XM_005252823.3:c.677A>C XP_005252880.1:p.His226Pro
XM_011519949.1:c.665A>C XP_011518251.1:p.His222Pro
XM_005252820.3:c.716A>C XP_005252877.2:p.His239Pro
XM_005252821.3:c.713A>C XP_005252878.2:p.His238Pro
XM_005252822.4:c.680A>C XP_005252879.1:p.His227Pro
XM_011519949.2:c.665A>C XP_011518251.1:p.His222Pro
NM_001142649.2:c.755A>C NP_001136121.1:p.His252Pro
NM_213599.3:c.758A>C MANE Select NP_998764.1:p.His253Pro