Canonical Allele Identifier: CA415858911

Gene: CA6

Linked Data

• gnomAD v4: 1-8957261-G-C
• MyVariant Identifiers: chr1:g.9017320G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957261G>C , CM000663.2:g.8957261G>C	GRCh38
NC_000001.10:g.9017320G>C , CM000663.1:g.9017320G>C	GRCh37
NC_000001.9:g.8939907G>C	NCBI36
NG_033975.1:g.16428G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.384G>C MANE Select	ENSP00000366662.2:p.Val128=
ENST00000377436.6:c.384G>C	ENSP00000366654.3:p.Val128=
ENST00000377442.3:c.204G>C	ENSP00000366661.2:p.Val68=
ENST00000377443.6:c.384G>C	ENSP00000366662.2:p.Val128=
ENST00000476083.1:n.99-1649G>C
ENST00000549778.5:c.288G>C	ENSP00000447108.1:p.Val96=
NM_001215.3:c.384G>C	NP_001206.2:p.Val128=
NM_001270500.1:c.384G>C	NP_001257429.1:p.Val128=
NM_001270501.1:c.204G>C	NP_001257430.1:p.Val68=
NM_001270502.1:c.25-1649G>C	NP_001257431.1:n.25-1649G>C
XM_011542083.1:c.396G>C	XP_011540385.1:p.Val132=
XM_011542084.1:c.396G>C	XP_011540386.1:p.Val132=
XM_011542083.3:c.396G>C	XP_011540385.1:p.Val132=
XM_011542084.3:c.396G>C	XP_011540386.1:p.Val132=
NM_001215.4:c.384G>C MANE Select	NP_001206.2:p.Val128=
NM_001270500.2:c.384G>C	NP_001257429.1:p.Val128=
NM_001270501.2:c.204G>C	NP_001257430.1:p.Val68=
NM_001270502.2:c.25-1649G>C	NP_001257431.1:n.25-1649G>C