Canonical Allele Identifier: CA415858844
Gene: CA6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.9017272T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957213T>C , CM000663.2:g.8957213T>C GRCh38
NC_000001.10:g.9017272T>C , CM000663.1:g.9017272T>C GRCh37
NC_000001.9:g.8939859T>C NCBI36
NG_033975.1:g.16380T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.336T>C MANE Select ENSP00000366662.2:p.Phe112=
ENST00000377436.6:c.336T>C ENSP00000366654.3:p.Phe112=
ENST00000377442.3:c.156T>C ENSP00000366661.2:p.Phe52=
ENST00000377443.6:c.336T>C ENSP00000366662.2:p.Phe112=
ENST00000476083.1:n.99-1697T>C
ENST00000549778.5:c.240T>C ENSP00000447108.1:p.Phe80=
NM_001215.3:c.336T>C NP_001206.2:p.Phe112=
NM_001270500.1:c.336T>C NP_001257429.1:p.Phe112=
NM_001270501.1:c.156T>C NP_001257430.1:p.Phe52=
NM_001270502.1:c.25-1697T>C NP_001257431.1:n.25-1697T>C
XM_011542083.1:c.348T>C XP_011540385.1:p.Phe116=
XM_011542084.1:c.348T>C XP_011540386.1:p.Phe116=
XM_011542083.3:c.348T>C XP_011540385.1:p.Phe116=
XM_011542084.3:c.348T>C XP_011540386.1:p.Phe116=
NM_001215.4:c.336T>C MANE Select NP_001206.2:p.Phe112=
NM_001270500.2:c.336T>C NP_001257429.1:p.Phe112=
NM_001270501.2:c.156T>C NP_001257430.1:p.Phe52=
NM_001270502.2:c.25-1697T>C NP_001257431.1:n.25-1697T>C