Canonical Allele Identifier: CA338184767

Gene: CA6

Linked Data

• dbSNP Id: rs1463700244
• gnomAD v2: 1-9017264-A-G
• gnomAD v3: 1-8957205-A-G
• gnomAD v4: 1-8957205-A-G
• MyVariant Identifiers: chr1:g.9017264A>G (hg19) ; chr1:g.8957205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957205A>G , CM000663.2:g.8957205A>G	GRCh38
NC_000001.10:g.9017264A>G , CM000663.1:g.9017264A>G	GRCh37
NC_000001.9:g.8939851A>G	NCBI36
NG_033975.1:g.16372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.328A>G MANE Select	ENSP00000366662.2:p.Met110Val
ENST00000377436.6:c.328A>G	ENSP00000366654.3:p.Met110Val
ENST00000377442.3:c.148A>G	ENSP00000366661.2:p.Met50Val
ENST00000377443.6:c.328A>G	ENSP00000366662.2:p.Met110Val
ENST00000476083.1:n.99-1705A>G
ENST00000549778.5:c.232A>G	ENSP00000447108.1:p.Met78Val
NM_001215.3:c.328A>G	NP_001206.2:p.Met110Val
NM_001270500.1:c.328A>G	NP_001257429.1:p.Met110Val
NM_001270501.1:c.148A>G	NP_001257430.1:p.Met50Val
NM_001270502.1:c.25-1705A>G	NP_001257431.1:n.25-1705A>G
XM_011542083.1:c.340A>G	XP_011540385.1:p.Met114Val
XM_011542084.1:c.340A>G	XP_011540386.1:p.Met114Val
XM_011542083.3:c.340A>G	XP_011540385.1:p.Met114Val
XM_011542084.3:c.340A>G	XP_011540386.1:p.Met114Val
NM_001215.4:c.328A>G MANE Select	NP_001206.2:p.Met110Val
NM_001270500.2:c.328A>G	NP_001257429.1:p.Met110Val
NM_001270501.2:c.148A>G	NP_001257430.1:p.Met50Val
NM_001270502.2:c.25-1705A>G	NP_001257431.1:n.25-1705A>G