Canonical Allele Identifier: CA8223455

Gene: CA5A

Linked Data

• ClinVar Variation Id: 946825
• ClinVar RCV Id: RCV001217769 ; RCV001773487
• dbSNP Id: rs754607374
• ExAC: 16:87936113 T / G
• gnomAD v3: 16-87902507-T-G
• gnomAD v4: 16-87902507-T-G
• MyVariant Identifiers: chr16:g.87936113T>G (hg19) ; chr16:g.87902507T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902507T>G , CM000678.2:g.87902507T>G	GRCh38
NC_000016.9:g.87936113T>G , CM000678.1:g.87936113T>G	GRCh37
NC_000016.8:g.86493614T>G	NCBI36
NG_033227.1:g.39000A>C
NG_033227.2:g.39023A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.473A>C	ENSP00000497934.1:p.His158Pro
ENST00000648177.1:c.354A>C	ENSP00000497626.1:p.Ser118=
ENST00000649158.1:c.473A>C	ENSP00000496993.1:p.His158Pro
ENST00000649794.3:c.473A>C MANE Select	ENSP00000498065.2:p.His158Pro
ENST00000309893.3:c.473A>C	ENSP00000309649.2:p.His158Pro
NM_001739.1:c.473A>C	NP_001730.1:p.His158Pro
XM_011523309.1:c.473A>C	XP_011521611.1:p.His158Pro
XM_011523310.1:c.473A>C	XP_011521612.1:p.His158Pro
XR_933417.1:n.592A>C
NM_001739.2:c.473A>C MANE Select	NP_001730.1:p.His158Pro
XM_011523309.2:c.473A>C	XP_011521611.1:p.His158Pro
XM_017023646.1:c.473A>C	XP_016879135.1:p.His158Pro
XM_024450434.1:c.95A>C	XP_024306202.1:p.His32Pro
XR_002957839.1:n.598A>C
NM_001367225.1:c.473A>C	NP_001354154.1:p.His158Pro
NR_159798.1:n.552A>C
NR_159799.1:n.433A>C