Canonical Allele Identifier: CA338184776
Gene: CA6 HGNC NCBI

Linked Data

dbSNP Id: rs1639710709
gnomAD v3: 1-8957209-A-C
gnomAD v4: 1-8957209-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957209A>C , CM000663.2:g.8957209A>C GRCh38
NC_000001.10:g.9017268A>C , CM000663.1:g.9017268A>C GRCh37
NC_000001.9:g.8939855A>C NCBI36
NG_033975.1:g.16376A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.332A>C MANE Select ENSP00000366662.2:p.His111Pro
ENST00000377436.6:c.332A>C ENSP00000366654.3:p.His111Pro
ENST00000377442.3:c.152A>C ENSP00000366661.2:p.His51Pro
ENST00000377443.6:c.332A>C ENSP00000366662.2:p.His111Pro
ENST00000476083.1:n.99-1701A>C
ENST00000549778.5:c.236A>C ENSP00000447108.1:p.His79Pro
NM_001215.3:c.332A>C NP_001206.2:p.His111Pro
NM_001270500.1:c.332A>C NP_001257429.1:p.His111Pro
NM_001270501.1:c.152A>C NP_001257430.1:p.His51Pro
NM_001270502.1:c.25-1701A>C NP_001257431.1:n.25-1701A>C
XM_011542083.1:c.344A>C XP_011540385.1:p.His115Pro
XM_011542084.1:c.344A>C XP_011540386.1:p.His115Pro
XM_011542083.3:c.344A>C XP_011540385.1:p.His115Pro
XM_011542084.3:c.344A>C XP_011540386.1:p.His115Pro
NM_001215.4:c.332A>C MANE Select NP_001206.2:p.His111Pro
NM_001270500.2:c.332A>C NP_001257429.1:p.His111Pro
NM_001270501.2:c.152A>C NP_001257430.1:p.His51Pro
NM_001270502.2:c.25-1701A>C NP_001257431.1:n.25-1701A>C