Canonical Allele Identifier: CA338184673
Gene: CA6 HGNC NCBI

Linked Data

dbSNP Id: rs1165545375
gnomAD v2: 1-9017219-A-G
gnomAD v4: 1-8957160-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957160A>G , CM000663.2:g.8957160A>G GRCh38
NC_000001.10:g.9017219A>G , CM000663.1:g.9017219A>G GRCh37
NC_000001.9:g.8939806A>G NCBI36
NG_033975.1:g.16327A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.283A>G MANE Select ENSP00000366662.2:p.Met95Val
ENST00000377436.6:c.283A>G ENSP00000366654.3:p.Met95Val
ENST00000377442.3:c.103A>G ENSP00000366661.2:p.Met35Val
ENST00000377443.6:c.283A>G ENSP00000366662.2:p.Met95Val
ENST00000476083.1:n.99-1750A>G
ENST00000549778.5:c.187A>G ENSP00000447108.1:p.Met63Val
NM_001215.3:c.283A>G NP_001206.2:p.Met95Val
NM_001270500.1:c.283A>G NP_001257429.1:p.Met95Val
NM_001270501.1:c.103A>G NP_001257430.1:p.Met35Val
NM_001270502.1:c.25-1750A>G NP_001257431.1:n.25-1750A>G
XM_011542083.1:c.295A>G XP_011540385.1:p.Met99Val
XM_011542084.1:c.295A>G XP_011540386.1:p.Met99Val
XM_011542083.3:c.295A>G XP_011540385.1:p.Met99Val
XM_011542084.3:c.295A>G XP_011540386.1:p.Met99Val
NM_001215.4:c.283A>G MANE Select NP_001206.2:p.Met95Val
NM_001270500.2:c.283A>G NP_001257429.1:p.Met95Val
NM_001270501.2:c.103A>G NP_001257430.1:p.Met35Val
NM_001270502.2:c.25-1750A>G NP_001257431.1:n.25-1750A>G