Canonical Allele Identifier: CA572964

Gene: CA6

Linked Data

• ClinVar Variation Id: 2359996
• ClinVar RCV Id: RCV004198810
• dbSNP Id: rs199988726
• ExAC: 1:9017273 C / T
• gnomAD v2: 1-9017273-C-T
• gnomAD v3: 1-8957214-C-T
• gnomAD v4: 1-8957214-C-T
• MyVariant Identifiers: chr1:g.9017273C>T (hg19) ; chr1:g.8957214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957214C>T , CM000663.2:g.8957214C>T	GRCh38
NC_000001.10:g.9017273C>T , CM000663.1:g.9017273C>T	GRCh37
NC_000001.9:g.8939860C>T	NCBI36
NG_033975.1:g.16381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.337C>T MANE Select	ENSP00000366662.2:p.His113Tyr
ENST00000377436.6:c.337C>T	ENSP00000366654.3:p.His113Tyr
ENST00000377442.3:c.157C>T	ENSP00000366661.2:p.His53Tyr
ENST00000377443.6:c.337C>T	ENSP00000366662.2:p.His113Tyr
ENST00000476083.1:n.99-1696C>T
ENST00000549778.5:c.241C>T	ENSP00000447108.1:p.His81Tyr
NM_001215.3:c.337C>T	NP_001206.2:p.His113Tyr
NM_001270500.1:c.337C>T	NP_001257429.1:p.His113Tyr
NM_001270501.1:c.157C>T	NP_001257430.1:p.His53Tyr
NM_001270502.1:c.25-1696C>T	NP_001257431.1:n.25-1696C>T
XM_011542083.1:c.349C>T	XP_011540385.1:p.His117Tyr
XM_011542084.1:c.349C>T	XP_011540386.1:p.His117Tyr
XM_011542083.3:c.349C>T	XP_011540385.1:p.His117Tyr
XM_011542084.3:c.349C>T	XP_011540386.1:p.His117Tyr
NM_001215.4:c.337C>T MANE Select	NP_001206.2:p.His113Tyr
NM_001270500.2:c.337C>T	NP_001257429.1:p.His113Tyr
NM_001270501.2:c.157C>T	NP_001257430.1:p.His53Tyr
NM_001270502.2:c.25-1696C>T	NP_001257431.1:n.25-1696C>T