Canonical Allele Identifier: CA338184773

Gene: CA6

Linked Data

• gnomAD v4: 1-8957208-C-A
• MyVariant Identifiers: chr1:g.9017267C>A (hg19) ; chr1:g.8957208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957208C>A , CM000663.2:g.8957208C>A	GRCh38
NC_000001.10:g.9017267C>A , CM000663.1:g.9017267C>A	GRCh37
NC_000001.9:g.8939854C>A	NCBI36
NG_033975.1:g.16375C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.331C>A MANE Select	ENSP00000366662.2:p.His111Asn
ENST00000377436.6:c.331C>A	ENSP00000366654.3:p.His111Asn
ENST00000377442.3:c.151C>A	ENSP00000366661.2:p.His51Asn
ENST00000377443.6:c.331C>A	ENSP00000366662.2:p.His111Asn
ENST00000476083.1:n.99-1702C>A
ENST00000549778.5:c.235C>A	ENSP00000447108.1:p.His79Asn
NM_001215.3:c.331C>A	NP_001206.2:p.His111Asn
NM_001270500.1:c.331C>A	NP_001257429.1:p.His111Asn
NM_001270501.1:c.151C>A	NP_001257430.1:p.His51Asn
NM_001270502.1:c.25-1702C>A	NP_001257431.1:n.25-1702C>A
XM_011542083.1:c.343C>A	XP_011540385.1:p.His115Asn
XM_011542084.1:c.343C>A	XP_011540386.1:p.His115Asn
XM_011542083.3:c.343C>A	XP_011540385.1:p.His115Asn
XM_011542084.3:c.343C>A	XP_011540386.1:p.His115Asn
NM_001215.4:c.331C>A MANE Select	NP_001206.2:p.His111Asn
NM_001270500.2:c.331C>A	NP_001257429.1:p.His111Asn
NM_001270501.2:c.151C>A	NP_001257430.1:p.His51Asn
NM_001270502.2:c.25-1702C>A	NP_001257431.1:n.25-1702C>A