Canonical Allele Identifier: CA572977

Gene: CA6

Linked Data

• dbSNP Id: rs374670090
• ExAC: 1:9017327 A / T
• gnomAD v2: 1-9017327-A-T
• gnomAD v3: 1-8957268-A-T
• gnomAD v4: 1-8957268-A-T
• MyVariant Identifiers: chr1:g.9017327A>T (hg19) ; chr1:g.8957268A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957268A>T , CM000663.2:g.8957268A>T	GRCh38
NC_000001.10:g.9017327A>T , CM000663.1:g.9017327A>T	GRCh37
NC_000001.9:g.8939914A>T	NCBI36
NG_033975.1:g.16435A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.391A>T MANE Select	ENSP00000366662.2:p.Ile131Phe
ENST00000377436.6:c.391A>T	ENSP00000366654.3:p.Ile131Phe
ENST00000377442.3:c.211A>T	ENSP00000366661.2:p.Ile71Phe
ENST00000377443.6:c.391A>T	ENSP00000366662.2:p.Ile131Phe
ENST00000476083.1:n.99-1642A>T
ENST00000549778.5:c.295A>T	ENSP00000447108.1:p.Ile99Phe
NM_001215.3:c.391A>T	NP_001206.2:p.Ile131Phe
NM_001270500.1:c.391A>T	NP_001257429.1:p.Ile131Phe
NM_001270501.1:c.211A>T	NP_001257430.1:p.Ile71Phe
NM_001270502.1:c.25-1642A>T	NP_001257431.1:n.25-1642A>T
XM_011542083.1:c.403A>T	XP_011540385.1:p.Ile135Phe
XM_011542084.1:c.403A>T	XP_011540386.1:p.Ile135Phe
XM_011542083.3:c.403A>T	XP_011540385.1:p.Ile135Phe
XM_011542084.3:c.403A>T	XP_011540386.1:p.Ile135Phe
NM_001215.4:c.391A>T MANE Select	NP_001206.2:p.Ile131Phe
NM_001270500.2:c.391A>T	NP_001257429.1:p.Ile131Phe
NM_001270501.2:c.211A>T	NP_001257430.1:p.Ile71Phe
NM_001270502.2:c.25-1642A>T	NP_001257431.1:n.25-1642A>T