Canonical Allele Identifier: CA415858892
Gene: CA6 HGNC NCBI

Linked Data

gnomAD v4: 1-8957231-C-T
MyVariant Identifiers: chr1:g.9017290C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957231C>T , CM000663.2:g.8957231C>T GRCh38
NC_000001.10:g.9017290C>T , CM000663.1:g.9017290C>T GRCh37
NC_000001.9:g.8939877C>T NCBI36
NG_033975.1:g.16398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.354C>T MANE Select ENSP00000366662.2:p.Ser118=
ENST00000377436.6:c.354C>T ENSP00000366654.3:p.Ser118=
ENST00000377442.3:c.174C>T ENSP00000366661.2:p.Ser58=
ENST00000377443.6:c.354C>T ENSP00000366662.2:p.Ser118=
ENST00000476083.1:n.99-1679C>T
ENST00000549778.5:c.258C>T ENSP00000447108.1:p.Ser86=
NM_001215.3:c.354C>T NP_001206.2:p.Ser118=
NM_001270500.1:c.354C>T NP_001257429.1:p.Ser118=
NM_001270501.1:c.174C>T NP_001257430.1:p.Ser58=
NM_001270502.1:c.25-1679C>T NP_001257431.1:n.25-1679C>T
XM_011542083.1:c.366C>T XP_011540385.1:p.Ser122=
XM_011542084.1:c.366C>T XP_011540386.1:p.Ser122=
XM_011542083.3:c.366C>T XP_011540385.1:p.Ser122=
XM_011542084.3:c.366C>T XP_011540386.1:p.Ser122=
NM_001215.4:c.354C>T MANE Select NP_001206.2:p.Ser118=
NM_001270500.2:c.354C>T NP_001257429.1:p.Ser118=
NM_001270501.2:c.174C>T NP_001257430.1:p.Ser58=
NM_001270502.2:c.25-1679C>T NP_001257431.1:n.25-1679C>T