Canonical Allele Identifier: CA12726840
Community Standard Title: NM_004056.6(CA8):c.-54A>C
Gene: CA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60281201T>G , CM000670.2:g.60281201T>G GRCh38
NC_000008.10:g.61193760T>G , CM000670.1:g.61193760T>G GRCh37
NC_000008.9:g.61356314T>G NCBI36
NG_023193.1:g.5195A>C
NG_023193.2:g.5195A>C

Transcript Alleles

HGVS Amino-acid Change
NM_004056.6:c.-54A>C MANE Select NP_004047.3:n.-54A>C
ENST00000317995.5:c.-54A>C MANE Select ENSP00000314407.4:n.-54A>C
NM_001321837.1:c.-54A>C NP_001308766.1:n.-54A>C
NM_001321837.2:c.-54A>C NP_001308766.1:n.-54A>C
NM_001321838.1:c.-54A>C NP_001308767.1:n.-54A>C
NM_001321838.2:c.-54A>C NP_001308767.1:n.-54A>C
NM_001321839.1:c.-54A>C NP_001308768.1:n.-54A>C
NM_001321839.2:c.-54A>C NP_001308768.1:n.-54A>C
NM_004056.4:c.-54A>C NP_004047.3:n.-54A>C
NM_004056.5:c.-54A>C NP_004047.3:n.-54A>C
NR_135821.1:n.223A>C
NR_135821.2:n.200A>C
ENST00000317995.4:c.-54A>C ENSP00000314407.4:n.-54A>C
ENST00000524872.5:n.185A>C
ENST00000529918.1:n.124A>C
XM_011517585.1:c.-54A>C XP_011515887.1:n.-54A>C
XM_011517586.1:c.-54A>C XP_011515888.1:n.-54A>C
XM_011517587.1:c.-54A>C XP_011515889.1:n.-54A>C
XM_011517587.2:c.-54A>C XP_011515889.1:n.-54A>C
XM_011517588.1:c.-54A>C XP_011515890.1:n.-54A>C
XM_011517588.3:c.-54A>C XP_011515890.1:n.-54A>C
XM_017013818.1:c.-399A>C XP_016869307.1:n.-399A>C