Canonical Allele Identifier: CA8223438

Gene: CA5A

Linked Data

• ClinVar Variation Id: 793186
• ClinVar RCV Id: RCV002548405
• dbSNP Id: rs534860826
• ExAC: 16:87936043 G / A
• gnomAD v2: 16-87936043-G-A
• gnomAD v3: 16-87902437-G-A
• gnomAD v4: 16-87902437-G-A
• MyVariant Identifiers: chr16:g.87936043G>A (hg19) ; chr16:g.87902437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902437G>A , CM000678.2:g.87902437G>A	GRCh38
NC_000016.9:g.87936043G>A , CM000678.1:g.87936043G>A	GRCh37
NC_000016.8:g.86493544G>A	NCBI36
NG_033227.1:g.39070C>T
NG_033227.2:g.39093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.543C>T	ENSP00000497934.1:p.Gly181=
ENST00000648177.1:c.424C>T	ENSP00000497626.1:p.Arg142Cys
ENST00000649158.1:c.543C>T	ENSP00000496993.1:p.Gly181=
ENST00000649794.3:c.543C>T MANE Select	ENSP00000498065.2:p.Gly181=
ENST00000309893.3:c.543C>T	ENSP00000309649.2:p.Gly181=
NM_001739.1:c.543C>T	NP_001730.1:p.Gly181=
XM_011523309.1:c.543C>T	XP_011521611.1:p.Gly181=
XM_011523310.1:c.543C>T	XP_011521612.1:p.Gly181=
XR_933417.1:n.662C>T
NM_001739.2:c.543C>T MANE Select	NP_001730.1:p.Gly181=
XM_011523309.2:c.543C>T	XP_011521611.1:p.Gly181=
XM_017023646.1:c.543C>T	XP_016879135.1:p.Gly181=
XM_024450434.1:c.165C>T	XP_024306202.1:p.Gly55=
XR_002957839.1:n.668C>T
NM_001367225.1:c.543C>T	NP_001354154.1:p.Gly181=
NR_159798.1:n.622C>T
NR_159799.1:n.503C>T