Canonical Allele Identifier: CA397041830

Gene: CA5A

Linked Data

• ClinVar Variation Id: 1929769
• ClinVar RCV Id: RCV002645593
• dbSNP Id: rs2055892914
• gnomAD v4: 16-87902472-C-A
• MyVariant Identifiers: chr16:g.87936078C>A (hg19) ; chr16:g.87902472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902472C>A , CM000678.2:g.87902472C>A	GRCh38
NC_000016.9:g.87936078C>A , CM000678.1:g.87936078C>A	GRCh37
NC_000016.8:g.86493579C>A	NCBI36
NG_033227.1:g.39035G>T
NG_033227.2:g.39058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.508G>T	ENSP00000497934.1:p.Ala170Ser
ENST00000648177.1:c.389G>T	ENSP00000497626.1:p.Ser130Ile
ENST00000649158.1:c.508G>T	ENSP00000496993.1:p.Ala170Ser
ENST00000649794.3:c.508G>T MANE Select	ENSP00000498065.2:p.Ala170Ser
ENST00000309893.3:c.508G>T	ENSP00000309649.2:p.Ala170Ser
NM_001739.1:c.508G>T	NP_001730.1:p.Ala170Ser
XM_011523309.1:c.508G>T	XP_011521611.1:p.Ala170Ser
XM_011523310.1:c.508G>T	XP_011521612.1:p.Ala170Ser
XR_933417.1:n.627G>T
NM_001739.2:c.508G>T MANE Select	NP_001730.1:p.Ala170Ser
XM_011523309.2:c.508G>T	XP_011521611.1:p.Ala170Ser
XM_017023646.1:c.508G>T	XP_016879135.1:p.Ala170Ser
XM_024450434.1:c.130G>T	XP_024306202.1:p.Ala44Ser
XR_002957839.1:n.633G>T
NM_001367225.1:c.508G>T	NP_001354154.1:p.Ala170Ser
NR_159798.1:n.587G>T
NR_159799.1:n.468G>T