Canonical Allele Identifier: CA415858701

Gene: CA6

Linked Data

• gnomAD v4: 1-8957186-T-C
• MyVariant Identifiers: chr1:g.9017245T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957186T>C , CM000663.2:g.8957186T>C	GRCh38
NC_000001.10:g.9017245T>C , CM000663.1:g.9017245T>C	GRCh37
NC_000001.9:g.8939832T>C	NCBI36
NG_033975.1:g.16353T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.309T>C MANE Select	ENSP00000366662.2:p.Thr103=
ENST00000377436.6:c.309T>C	ENSP00000366654.3:p.Thr103=
ENST00000377442.3:c.129T>C	ENSP00000366661.2:p.Thr43=
ENST00000377443.6:c.309T>C	ENSP00000366662.2:p.Thr103=
ENST00000476083.1:n.99-1724T>C
ENST00000549778.5:c.213T>C	ENSP00000447108.1:p.Thr71=
NM_001215.3:c.309T>C	NP_001206.2:p.Thr103=
NM_001270500.1:c.309T>C	NP_001257429.1:p.Thr103=
NM_001270501.1:c.129T>C	NP_001257430.1:p.Thr43=
NM_001270502.1:c.25-1724T>C	NP_001257431.1:n.25-1724T>C
XM_011542083.1:c.321T>C	XP_011540385.1:p.Thr107=
XM_011542084.1:c.321T>C	XP_011540386.1:p.Thr107=
XM_011542083.3:c.321T>C	XP_011540385.1:p.Thr107=
XM_011542084.3:c.321T>C	XP_011540386.1:p.Thr107=
NM_001215.4:c.309T>C MANE Select	NP_001206.2:p.Thr103=
NM_001270500.2:c.309T>C	NP_001257429.1:p.Thr103=
NM_001270501.2:c.129T>C	NP_001257430.1:p.Thr43=
NM_001270502.2:c.25-1724T>C	NP_001257431.1:n.25-1724T>C