Canonical Allele Identifier: CA178119090
Gene: CA8 HGNC NCBI

Linked Data

dbSNP Id: rs760781346
gnomAD v2: 8-61105159-C-T
gnomAD v3: 8-60192600-C-T
gnomAD v4: 8-60192600-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192600C>T , CM000670.2:g.60192600C>T GRCh38
NC_000008.10:g.61105159C>T , CM000670.1:g.61105159C>T GRCh37
NC_000008.9:g.61267713C>T NCBI36
NG_023193.1:g.93796G>A
NG_023193.2:g.93796G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317995.5:c.*36-2615G>A MANE Select ENSP00000314407.4:n.*36-2615G>A
ENST00000317995.4:c.*36-2615G>A ENSP00000314407.4:n.*36-2615G>A
NM_004056.4:c.*36-2615G>A NP_004047.3:n.*36-2615G>A
XM_011517586.1:c.*36-2615G>A XP_011515888.1:n.*36-2615G>A
NM_001321839.1:c.*36-2615G>A NP_001308768.1:n.*36-2615G>A
NM_004056.5:c.*36-2615G>A NP_004047.3:n.*36-2615G>A
NR_135821.1:n.1235-2615G>A
XM_017013818.1:c.*36-2615G>A XP_016869307.1:n.*36-2615G>A
NM_004056.6:c.*36-2615G>A MANE Select NP_004047.3:n.*36-2615G>A
NM_001321839.2:c.*36-2615G>A NP_001308768.1:n.*36-2615G>A
NR_135821.2:n.1212-2615G>A