Canonical Allele Identifier: CA572808
Gene: CA6 HGNC NCBI

Linked Data

dbSNP Id: rs2274328
gnomAD v2: 1-9009444-A-C
gnomAD v3: 1-8949385-A-C
gnomAD v4: 1-8949385-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8949385A>C , CM000663.2:g.8949385A>C GRCh38
NC_000001.10:g.9009444A>C , CM000663.1:g.9009444A>C GRCh37
NC_000001.9:g.8932031A>C NCBI36
NG_033975.1:g.8552A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377443.7:c.202A>C MANE Select ENSP00000366662.2:p.Met68Leu
ENST00000377436.6:c.202A>C ENSP00000366654.3:p.Met68Leu
ENST00000377442.3:c.79+3420A>C ENSP00000366661.2:n.79+3420A>C
ENST00000377443.6:c.202A>C ENSP00000366662.2:p.Met68Leu
ENST00000476083.1:n.98+3420A>C
ENST00000480186.7:c.202A>C ENSP00000435280.1:p.Met68Leu
ENST00000549778.5:c.168+34A>C ENSP00000447108.1:n.168+34A>C
NM_001215.3:c.202A>C NP_001206.2:p.Met68Leu
NM_001270500.1:c.202A>C NP_001257429.1:p.Met68Leu
NM_001270501.1:c.79+3420A>C NP_001257430.1:n.79+3420A>C
NM_001270502.1:c.24+3420A>C NP_001257431.1:n.24+3420A>C
XM_011542083.1:c.214A>C XP_011540385.1:p.Met72Leu
XM_011542084.1:c.214A>C XP_011540386.1:p.Met72Leu
XM_011542083.3:c.214A>C XP_011540385.1:p.Met72Leu
XM_011542084.3:c.214A>C XP_011540386.1:p.Met72Leu
NM_001215.4:c.202A>C MANE Select NP_001206.2:p.Met68Leu
NM_001270500.2:c.202A>C NP_001257429.1:p.Met68Leu
NM_001270501.2:c.79+3420A>C NP_001257430.1:n.79+3420A>C
NM_001270502.2:c.24+3420A>C NP_001257431.1:n.24+3420A>C