Canonical Allele Identifier: CA582253920
Gene: CA8 HGNC NCBI

Linked Data

dbSNP Id: rs1335950756
gnomAD v2: 8-61105163-C-A
gnomAD v3: 8-60192604-C-A
gnomAD v4: 8-60192604-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192604C>A , CM000670.2:g.60192604C>A GRCh38
NC_000008.10:g.61105163C>A , CM000670.1:g.61105163C>A GRCh37
NC_000008.9:g.61267717C>A NCBI36
NG_023193.1:g.93792G>T
NG_023193.2:g.93792G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317995.5:c.*36-2619G>T MANE Select ENSP00000314407.4:n.*36-2619G>T
ENST00000317995.4:c.*36-2619G>T ENSP00000314407.4:n.*36-2619G>T
NM_004056.4:c.*36-2619G>T NP_004047.3:n.*36-2619G>T
XM_011517586.1:c.*36-2619G>T XP_011515888.1:n.*36-2619G>T
NM_001321839.1:c.*36-2619G>T NP_001308768.1:n.*36-2619G>T
NM_004056.5:c.*36-2619G>T NP_004047.3:n.*36-2619G>T
NR_135821.1:n.1235-2619G>T
XM_017013818.1:c.*36-2619G>T XP_016869307.1:n.*36-2619G>T
NM_004056.6:c.*36-2619G>T MANE Select NP_004047.3:n.*36-2619G>T
NM_001321839.2:c.*36-2619G>T NP_001308768.1:n.*36-2619G>T
NR_135821.2:n.1212-2619G>T