Canonical Allele Identifier: CA8223440

Gene: CA5A

Linked Data

• dbSNP Id: rs771418177
• ExAC: 16:87936045 C / G
• gnomAD v2: 16-87936045-C-G
• MyVariant Identifiers: chr16:g.87936045C>G (hg19) ; chr16:g.87902439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902439C>G , CM000678.2:g.87902439C>G	GRCh38
NC_000016.9:g.87936045C>G , CM000678.1:g.87936045C>G	GRCh37
NC_000016.8:g.86493546C>G	NCBI36
NG_033227.1:g.39068G>C
NG_033227.2:g.39091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.541G>C	ENSP00000497934.1:p.Gly181Arg
ENST00000648177.1:c.422G>C	ENSP00000497626.1:p.Arg141Thr
ENST00000649158.1:c.541G>C	ENSP00000496993.1:p.Gly181Arg
ENST00000649794.3:c.541G>C MANE Select	ENSP00000498065.2:p.Gly181Arg
ENST00000309893.3:c.541G>C	ENSP00000309649.2:p.Gly181Arg
NM_001739.1:c.541G>C	NP_001730.1:p.Gly181Arg
XM_011523309.1:c.541G>C	XP_011521611.1:p.Gly181Arg
XM_011523310.1:c.541G>C	XP_011521612.1:p.Gly181Arg
XR_933417.1:n.660G>C
NM_001739.2:c.541G>C MANE Select	NP_001730.1:p.Gly181Arg
XM_011523309.2:c.541G>C	XP_011521611.1:p.Gly181Arg
XM_017023646.1:c.541G>C	XP_016879135.1:p.Gly181Arg
XM_024450434.1:c.163G>C	XP_024306202.1:p.Gly55Arg
XR_002957839.1:n.666G>C
NM_001367225.1:c.541G>C	NP_001354154.1:p.Gly181Arg
NR_159798.1:n.620G>C
NR_159799.1:n.501G>C