Canonical Allele Identifier: CA17706995

Gene: CA6

Linked Data

• dbSNP Id: rs866610030
• gnomAD v4: 1-8957270-C-T
• MyVariant Identifiers: chr1:g.9017329C>T (hg19) ; chr1:g.8957270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957270C>T , CM000663.2:g.8957270C>T	GRCh38
NC_000001.10:g.9017329C>T , CM000663.1:g.9017329C>T	GRCh37
NC_000001.9:g.8939916C>T	NCBI36
NG_033975.1:g.16437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.393C>T MANE Select	ENSP00000366662.2:p.Ile131=
ENST00000377436.6:c.393C>T	ENSP00000366654.3:p.Ile131=
ENST00000377442.3:c.213C>T	ENSP00000366661.2:p.Ile71=
ENST00000377443.6:c.393C>T	ENSP00000366662.2:p.Ile131=
ENST00000476083.1:n.99-1640C>T
ENST00000549778.5:c.297C>T	ENSP00000447108.1:p.Ile99=
NM_001215.3:c.393C>T	NP_001206.2:p.Ile131=
NM_001270500.1:c.393C>T	NP_001257429.1:p.Ile131=
NM_001270501.1:c.213C>T	NP_001257430.1:p.Ile71=
NM_001270502.1:c.25-1640C>T	NP_001257431.1:n.25-1640C>T
XM_011542083.1:c.405C>T	XP_011540385.1:p.Ile135=
XM_011542084.1:c.405C>T	XP_011540386.1:p.Ile135=
XM_011542083.3:c.405C>T	XP_011540385.1:p.Ile135=
XM_011542084.3:c.405C>T	XP_011540386.1:p.Ile135=
NM_001215.4:c.393C>T MANE Select	NP_001206.2:p.Ile131=
NM_001270500.2:c.393C>T	NP_001257429.1:p.Ile131=
NM_001270501.2:c.213C>T	NP_001257430.1:p.Ile71=
NM_001270502.2:c.25-1640C>T	NP_001257431.1:n.25-1640C>T