Canonical Allele Identifier: CA10605076
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 285319
ClinVar RCV Id: RCV000339995
dbSNP Id: rs886043074

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000682089.1:n.209G>T
ENST00000682266.1:c.439G>T ENSP00000507766.1:p.Gly147Ter
ENST00000682341.1:c.847G>T ENSP00000508251.1:p.Gly283Ter
ENST00000682530.1:c.*821G>T ENSP00000506805.1:p.=
ENST00000683197.1:c.847G>T ENSP00000507641.1:p.Gly283Ter
ENST00000683411.1:c.439G>T ENSP00000508397.1:p.Gly147Ter
ENST00000683437.1:c.439G>T ENSP00000508408.1:p.Gly147Ter
ENST00000683613.1:n.1883G>T
ENST00000683834.1:n.1089G>T
ENST00000684663.1:c.844G>T ENSP00000508009.1:p.Gly282Ter
ENST00000324559.9:c.889G>T MANE Select ENSP00000315371.9:p.Gly297Ter
ENST00000648804.1:n.1224G>T
ENST00000324559.8:c.889G>T ENSP00000315371.8:p.Gly297Ter
NM_001142649.1:c.886G>T NP_001136121.1:p.Gly296Ter
NM_213599.2:c.889G>T , LRG_868t1:c.889G>T NP_998764.1:p.Gly297Ter
XM_005252820.2:c.847G>T XP_005252877.2:p.Gly283Ter
XM_005252821.2:c.844G>T XP_005252878.2:p.Gly282Ter
XM_005252822.3:c.811G>T XP_005252879.1:p.Gly271Ter
XM_005252823.3:c.808G>T XP_005252880.1:p.Gly270Ter
XM_011519949.1:c.796G>T XP_011518251.1:p.Gly266Ter
XM_005252820.3:c.847G>T XP_005252877.2:p.Gly283Ter
XM_005252821.3:c.844G>T XP_005252878.2:p.Gly282Ter
XM_005252822.4:c.811G>T XP_005252879.1:p.Gly271Ter
XM_011519949.2:c.796G>T XP_011518251.1:p.Gly266Ter
NM_001142649.2:c.886G>T NP_001136121.1:p.Gly296Ter
NM_213599.3:c.889G>T MANE Select NP_998764.1:p.Gly297Ter