Canonical Allele Identifier: CA8223437

Gene: CA5A

Linked Data

• ClinVar Variation Id: 1494683
• ClinVar RCV Id: RCV001989529
• dbSNP Id: rs149854962
• ExAC: 16:87936042 C / T
• gnomAD v2: 16-87936042-C-T
• gnomAD v3: 16-87902436-C-T
• gnomAD v4: 16-87902436-C-T
• MyVariant Identifiers: chr16:g.87936042C>T (hg19) ; chr16:g.87902436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902436C>T , CM000678.2:g.87902436C>T	GRCh38
NC_000016.9:g.87936042C>T , CM000678.1:g.87936042C>T	GRCh37
NC_000016.8:g.86493543C>T	NCBI36
NG_033227.1:g.39071G>A
NG_033227.2:g.39094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648022.1:c.544G>A	ENSP00000497934.1:p.Val182Met
ENST00000648177.1:c.425G>A	ENSP00000497626.1:p.Arg142His
ENST00000649158.1:c.544G>A	ENSP00000496993.1:p.Val182Met
ENST00000649794.3:c.544G>A MANE Select	ENSP00000498065.2:p.Val182Met
ENST00000309893.3:c.544G>A	ENSP00000309649.2:p.Val182Met
NM_001739.1:c.544G>A	NP_001730.1:p.Val182Met
XM_011523309.1:c.544G>A	XP_011521611.1:p.Val182Met
XM_011523310.1:c.544G>A	XP_011521612.1:p.Val182Met
XR_933417.1:n.663G>A
NM_001739.2:c.544G>A MANE Select	NP_001730.1:p.Val182Met
XM_011523309.2:c.544G>A	XP_011521611.1:p.Val182Met
XM_017023646.1:c.544G>A	XP_016879135.1:p.Val182Met
XM_024450434.1:c.166G>A	XP_024306202.1:p.Val56Met
XR_002957839.1:n.669G>A
NM_001367225.1:c.544G>A	NP_001354154.1:p.Val182Met
NR_159798.1:n.623G>A
NR_159799.1:n.504G>A