Canonical Allele Identifier: CA915948018
Community Standard Title: NM_213599.3(ANO5):c.364-5T>C
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22227297T>C , CM000673.2:g.22227297T>C GRCh38
NC_000011.9:g.22248843T>C , CM000673.1:g.22248843T>C GRCh37
NC_000011.8:g.22205419T>C NCBI36
NG_015844.1:g.39122T>C , LRG_868:g.39122T>C

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.364-5T>C MANE Select NP_998764.1:n.364-5T>C
ENST00000324559.9:c.364-5T>C MANE Select ENSP00000315371.9:n.364-5T>C
NM_001142649.1:c.361-5T>C NP_001136121.1:n.361-5T>C
NM_001142649.2:c.361-5T>C NP_001136121.1:n.361-5T>C
NM_213599.2:c.364-5T>C , LRG_868t1:c.364-5T>C NP_998764.1:n.364-5T>C
ENST00000324559.8:c.364-5T>C ENSP00000315371.8:n.364-5T>C
ENST00000648804.1:n.929-5T>C
ENST00000682266.1:c.-87-5T>C ENSP00000507766.1:n.-87-5T>C
ENST00000682341.1:c.322-5T>C ENSP00000508251.1:n.322-5T>C
ENST00000682530.1:c.*296-5T>C ENSP00000506805.1:n.*296-5T>C
ENST00000682684.1:n.743-5T>C
ENST00000683197.1:c.322-5T>C ENSP00000507641.1:n.322-5T>C
ENST00000683411.1:c.-87-5T>C ENSP00000508397.1:n.-87-5T>C
ENST00000683437.1:c.-87-5T>C ENSP00000508408.1:n.-87-5T>C
ENST00000683613.1:n.1358-5T>C
ENST00000683834.1:n.564-5T>C
ENST00000684663.1:c.319-5T>C ENSP00000508009.1:n.319-5T>C
XM_005252820.2:c.322-5T>C XP_005252877.2:n.322-5T>C
XM_005252820.3:c.322-5T>C XP_005252877.2:n.322-5T>C
XM_005252821.2:c.319-5T>C XP_005252878.2:n.319-5T>C
XM_005252821.3:c.319-5T>C XP_005252878.2:n.319-5T>C
XM_005252822.3:c.286-5T>C XP_005252879.1:n.286-5T>C
XM_005252822.4:c.286-5T>C XP_005252879.1:n.286-5T>C
XM_005252823.3:c.283-5T>C XP_005252880.1:n.283-5T>C
XM_011519949.1:c.271-5T>C XP_011518251.1:n.271-5T>C
XM_011519949.2:c.271-5T>C XP_011518251.1:n.271-5T>C