Canonical Allele Identifier: CA415858655

Gene: CA6

Linked Data

• MyVariant Identifiers: chr1:g.9017236T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957177T>C , CM000663.2:g.8957177T>C	GRCh38
NC_000001.10:g.9017236T>C , CM000663.1:g.9017236T>C	GRCh37
NC_000001.9:g.8939823T>C	NCBI36
NG_033975.1:g.16344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.300T>C MANE Select	ENSP00000366662.2:p.Ala100=
ENST00000377436.6:c.300T>C	ENSP00000366654.3:p.Ala100=
ENST00000377442.3:c.120T>C	ENSP00000366661.2:p.Ala40=
ENST00000377443.6:c.300T>C	ENSP00000366662.2:p.Ala100=
ENST00000476083.1:n.99-1733T>C
ENST00000549778.5:c.204T>C	ENSP00000447108.1:p.Ala68=
NM_001215.3:c.300T>C	NP_001206.2:p.Ala100=
NM_001270500.1:c.300T>C	NP_001257429.1:p.Ala100=
NM_001270501.1:c.120T>C	NP_001257430.1:p.Ala40=
NM_001270502.1:c.25-1733T>C	NP_001257431.1:n.25-1733T>C
XM_011542083.1:c.312T>C	XP_011540385.1:p.Ala104=
XM_011542084.1:c.312T>C	XP_011540386.1:p.Ala104=
XM_011542083.3:c.312T>C	XP_011540385.1:p.Ala104=
XM_011542084.3:c.312T>C	XP_011540386.1:p.Ala104=
NM_001215.4:c.300T>C MANE Select	NP_001206.2:p.Ala100=
NM_001270500.2:c.300T>C	NP_001257429.1:p.Ala100=
NM_001270501.2:c.120T>C	NP_001257430.1:p.Ala40=
NM_001270502.2:c.25-1733T>C	NP_001257431.1:n.25-1733T>C