Canonical Allele Identifier: CA338184940

Gene: CA6

Linked Data

• MyVariant Identifiers: chr1:g.9017344G>C (hg19) ; chr1:g.8957285G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957285G>C , CM000663.2:g.8957285G>C	GRCh38
NC_000001.10:g.9017344G>C , CM000663.1:g.9017344G>C	GRCh37
NC_000001.9:g.8939931G>C	NCBI36
NG_033975.1:g.16452G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.408G>C MANE Select	ENSP00000366662.2:p.Glu136Asp
ENST00000377436.6:c.408G>C	ENSP00000366654.3:p.Glu136Asp
ENST00000377442.3:c.228G>C	ENSP00000366661.2:p.Glu76Asp
ENST00000377443.6:c.408G>C	ENSP00000366662.2:p.Glu136Asp
ENST00000476083.1:n.99-1625G>C
ENST00000549778.5:c.312G>C	ENSP00000447108.1:p.Glu104Asp
NM_001215.3:c.408G>C	NP_001206.2:p.Glu136Asp
NM_001270500.1:c.408G>C	NP_001257429.1:p.Glu136Asp
NM_001270501.1:c.228G>C	NP_001257430.1:p.Glu76Asp
NM_001270502.1:c.25-1625G>C	NP_001257431.1:n.25-1625G>C
XM_011542083.1:c.420G>C	XP_011540385.1:p.Glu140Asp
XM_011542084.1:c.420G>C	XP_011540386.1:p.Glu140Asp
XM_011542083.3:c.420G>C	XP_011540385.1:p.Glu140Asp
XM_011542084.3:c.420G>C	XP_011540386.1:p.Glu140Asp
NM_001215.4:c.408G>C MANE Select	NP_001206.2:p.Glu136Asp
NM_001270500.2:c.408G>C	NP_001257429.1:p.Glu136Asp
NM_001270501.2:c.228G>C	NP_001257430.1:p.Glu76Asp
NM_001270502.2:c.25-1625G>C	NP_001257431.1:n.25-1625G>C