Canonical Allele Identifier: CA572968

Gene: CA6

Linked Data

• dbSNP Id: rs747480309
• ExAC: 1:9017292 C / T
• gnomAD v2: 1-9017292-C-T
• gnomAD v3: 1-8957233-C-T
• gnomAD v4: 1-8957233-C-T
• MyVariant Identifiers: chr1:g.9017292C>T (hg19) ; chr1:g.8957233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957233C>T , CM000663.2:g.8957233C>T	GRCh38
NC_000001.10:g.9017292C>T , CM000663.1:g.9017292C>T	GRCh37
NC_000001.9:g.8939879C>T	NCBI36
NG_033975.1:g.16400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.356C>T MANE Select	ENSP00000366662.2:p.Ser119Leu
ENST00000377436.6:c.356C>T	ENSP00000366654.3:p.Ser119Leu
ENST00000377442.3:c.176C>T	ENSP00000366661.2:p.Ser59Leu
ENST00000377443.6:c.356C>T	ENSP00000366662.2:p.Ser119Leu
ENST00000476083.1:n.99-1677C>T
ENST00000549778.5:c.260C>T	ENSP00000447108.1:p.Ser87Leu
NM_001215.3:c.356C>T	NP_001206.2:p.Ser119Leu
NM_001270500.1:c.356C>T	NP_001257429.1:p.Ser119Leu
NM_001270501.1:c.176C>T	NP_001257430.1:p.Ser59Leu
NM_001270502.1:c.25-1677C>T	NP_001257431.1:n.25-1677C>T
XM_011542083.1:c.368C>T	XP_011540385.1:p.Ser123Leu
XM_011542084.1:c.368C>T	XP_011540386.1:p.Ser123Leu
XM_011542083.3:c.368C>T	XP_011540385.1:p.Ser123Leu
XM_011542084.3:c.368C>T	XP_011540386.1:p.Ser123Leu
NM_001215.4:c.356C>T MANE Select	NP_001206.2:p.Ser119Leu
NM_001270500.2:c.356C>T	NP_001257429.1:p.Ser119Leu
NM_001270501.2:c.176C>T	NP_001257430.1:p.Ser59Leu
NM_001270502.2:c.25-1677C>T	NP_001257431.1:n.25-1677C>T