Canonical Allele Identifier: CA338184726

Gene: CA6

Linked Data

• MyVariant Identifiers: chr1:g.9017246G>C (hg19) ; chr1:g.8957187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957187G>C , CM000663.2:g.8957187G>C	GRCh38
NC_000001.10:g.9017246G>C , CM000663.1:g.9017246G>C	GRCh37
NC_000001.9:g.8939833G>C	NCBI36
NG_033975.1:g.16354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.310G>C MANE Select	ENSP00000366662.2:p.Val104Leu
ENST00000377436.6:c.310G>C	ENSP00000366654.3:p.Val104Leu
ENST00000377442.3:c.130G>C	ENSP00000366661.2:p.Val44Leu
ENST00000377443.6:c.310G>C	ENSP00000366662.2:p.Val104Leu
ENST00000476083.1:n.99-1723G>C
ENST00000549778.5:c.214G>C	ENSP00000447108.1:p.Val72Leu
NM_001215.3:c.310G>C	NP_001206.2:p.Val104Leu
NM_001270500.1:c.310G>C	NP_001257429.1:p.Val104Leu
NM_001270501.1:c.130G>C	NP_001257430.1:p.Val44Leu
NM_001270502.1:c.25-1723G>C	NP_001257431.1:n.25-1723G>C
XM_011542083.1:c.322G>C	XP_011540385.1:p.Val108Leu
XM_011542084.1:c.322G>C	XP_011540386.1:p.Val108Leu
XM_011542083.3:c.322G>C	XP_011540385.1:p.Val108Leu
XM_011542084.3:c.322G>C	XP_011540386.1:p.Val108Leu
NM_001215.4:c.310G>C MANE Select	NP_001206.2:p.Val104Leu
NM_001270500.2:c.310G>C	NP_001257429.1:p.Val104Leu
NM_001270501.2:c.130G>C	NP_001257430.1:p.Val44Leu
NM_001270502.2:c.25-1723G>C	NP_001257431.1:n.25-1723G>C