Canonical Allele Identifier: CA338184643

Gene: CA6

Linked Data

• gnomAD v4: 1-8957145-A-T
• MyVariant Identifiers: chr1:g.9017204A>T (hg19) ; chr1:g.8957145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957145A>T , CM000663.2:g.8957145A>T	GRCh38
NC_000001.10:g.9017204A>T , CM000663.1:g.9017204A>T	GRCh37
NC_000001.9:g.8939791A>T	NCBI36
NG_033975.1:g.16312A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.268A>T MANE Select	ENSP00000366662.2:p.Ser90Cys
ENST00000377436.6:c.268A>T	ENSP00000366654.3:p.Ser90Cys
ENST00000377442.3:c.88A>T	ENSP00000366661.2:p.Ser30Cys
ENST00000377443.6:c.268A>T	ENSP00000366662.2:p.Ser90Cys
ENST00000476083.1:n.99-1765A>T
ENST00000549778.5:c.172A>T	ENSP00000447108.1:p.Ser58Cys
NM_001215.3:c.268A>T	NP_001206.2:p.Ser90Cys
NM_001270500.1:c.268A>T	NP_001257429.1:p.Ser90Cys
NM_001270501.1:c.88A>T	NP_001257430.1:p.Ser30Cys
NM_001270502.1:c.25-1765A>T	NP_001257431.1:n.25-1765A>T
XM_011542083.1:c.280A>T	XP_011540385.1:p.Ser94Cys
XM_011542084.1:c.280A>T	XP_011540386.1:p.Ser94Cys
XM_011542083.3:c.280A>T	XP_011540385.1:p.Ser94Cys
XM_011542084.3:c.280A>T	XP_011540386.1:p.Ser94Cys
NM_001215.4:c.268A>T MANE Select	NP_001206.2:p.Ser90Cys
NM_001270500.2:c.268A>T	NP_001257429.1:p.Ser90Cys
NM_001270501.2:c.88A>T	NP_001257430.1:p.Ser30Cys
NM_001270502.2:c.25-1765A>T	NP_001257431.1:n.25-1765A>T