Canonical Allele Identifier: CA572954

Gene: CA6

Linked Data

• dbSNP Id: rs752327174
• ExAC: 1:9017225 A / C
• gnomAD v2: 1-9017225-A-C
• gnomAD v4: 1-8957166-A-C
• MyVariant Identifiers: chr1:g.9017225A>C (hg19) ; chr1:g.8957166A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957166A>C , CM000663.2:g.8957166A>C	GRCh38
NC_000001.10:g.9017225A>C , CM000663.1:g.9017225A>C	GRCh37
NC_000001.9:g.8939812A>C	NCBI36
NG_033975.1:g.16333A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.289A>C MANE Select	ENSP00000366662.2:p.Met97Leu
ENST00000377436.6:c.289A>C	ENSP00000366654.3:p.Met97Leu
ENST00000377442.3:c.109A>C	ENSP00000366661.2:p.Met37Leu
ENST00000377443.6:c.289A>C	ENSP00000366662.2:p.Met97Leu
ENST00000476083.1:n.99-1744A>C
ENST00000549778.5:c.193A>C	ENSP00000447108.1:p.Met65Leu
NM_001215.3:c.289A>C	NP_001206.2:p.Met97Leu
NM_001270500.1:c.289A>C	NP_001257429.1:p.Met97Leu
NM_001270501.1:c.109A>C	NP_001257430.1:p.Met37Leu
NM_001270502.1:c.25-1744A>C	NP_001257431.1:n.25-1744A>C
XM_011542083.1:c.301A>C	XP_011540385.1:p.Met101Leu
XM_011542084.1:c.301A>C	XP_011540386.1:p.Met101Leu
XM_011542083.3:c.301A>C	XP_011540385.1:p.Met101Leu
XM_011542084.3:c.301A>C	XP_011540386.1:p.Met101Leu
NM_001215.4:c.289A>C MANE Select	NP_001206.2:p.Met97Leu
NM_001270500.2:c.289A>C	NP_001257429.1:p.Met97Leu
NM_001270501.2:c.109A>C	NP_001257430.1:p.Met37Leu
NM_001270502.2:c.25-1744A>C	NP_001257431.1:n.25-1744A>C