Canonical Allele Identifier: CA218773035
Community Standard Title: NM_213599.3(ANO5):c.139-226T>G
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22218020T>G , CM000673.2:g.22218020T>G GRCh38
NC_000011.9:g.22239566T>G , CM000673.1:g.22239566T>G GRCh37
NC_000011.8:g.22196142T>G NCBI36
NG_015844.1:g.29845T>G , LRG_868:g.29845T>G

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.139-226T>G MANE Select NP_998764.1:n.139-226T>G
ENST00000324559.9:c.139-226T>G MANE Select ENSP00000315371.9:n.139-226T>G
NM_001142649.1:c.136-226T>G NP_001136121.1:n.136-226T>G
NM_001142649.2:c.136-226T>G NP_001136121.1:n.136-226T>G
NM_213599.2:c.139-226T>G , LRG_868t1:c.139-226T>G NP_998764.1:n.139-226T>G
ENST00000324559.8:c.139-226T>G ENSP00000315371.8:n.139-226T>G
ENST00000648804.1:n.670-566T>G
ENST00000682084.1:n.3313-226T>G
ENST00000682266.1:c.-270-3077T>G ENSP00000507766.1:n.-270-3077T>G
ENST00000682341.1:c.139-3077T>G ENSP00000508251.1:n.139-3077T>G
ENST00000682530.1:c.136-723T>G ENSP00000506805.1:n.136-723T>G
ENST00000682684.1:n.560-3077T>G
ENST00000683197.1:c.139-3077T>G ENSP00000507641.1:n.139-3077T>G
ENST00000683411.1:c.-270-3077T>G ENSP00000508397.1:n.-270-3077T>G
ENST00000683437.1:c.-270-3077T>G ENSP00000508408.1:n.-270-3077T>G
ENST00000683834.1:n.381-3077T>G
ENST00000683897.1:n.425-3077T>G
ENST00000684365.1:n.550-3077T>G
ENST00000684663.1:c.136-3077T>G ENSP00000508009.1:n.136-3077T>G
XM_005252820.2:c.139-3077T>G XP_005252877.2:n.139-3077T>G
XM_005252820.3:c.139-3077T>G XP_005252877.2:n.139-3077T>G
XM_005252821.2:c.136-3077T>G XP_005252878.2:n.136-3077T>G
XM_005252821.3:c.136-3077T>G XP_005252878.2:n.136-3077T>G
XM_005252822.3:c.61-226T>G XP_005252879.1:n.61-226T>G
XM_005252822.4:c.61-226T>G XP_005252879.1:n.61-226T>G
XM_005252823.3:c.58-226T>G XP_005252880.1:n.58-226T>G
XM_011519949.1:c.88-3077T>G XP_011518251.1:n.88-3077T>G
XM_011519949.2:c.88-3077T>G XP_011518251.1:n.88-3077T>G