Canonical Allele Identifier: CA397041983

Gene: CA5A

Linked Data

• dbSNP Id: rs1445077275
• gnomAD v4: 16-87902503-C-T
• MyVariant Identifiers: chr16:g.87936109C>T (hg19) ; chr16:g.87902503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902503C>T , CM000678.2:g.87902503C>T	GRCh38
NC_000016.9:g.87936109C>T , CM000678.1:g.87936109C>T	GRCh37
NC_000016.8:g.86493610C>T	NCBI36
NG_033227.1:g.39004G>A
NG_033227.2:g.39027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.477G>A	ENSP00000497934.1:p.Trp159Ter
ENST00000648177.1:c.358G>A	ENSP00000497626.1:p.Glu120Lys
ENST00000649158.1:c.477G>A	ENSP00000496993.1:p.Trp159Ter
ENST00000649794.3:c.477G>A MANE Select	ENSP00000498065.2:p.Trp159Ter
ENST00000309893.3:c.477G>A	ENSP00000309649.2:p.Trp159Ter
NM_001739.1:c.477G>A	NP_001730.1:p.Trp159Ter
XM_011523309.1:c.477G>A	XP_011521611.1:p.Trp159Ter
XM_011523310.1:c.477G>A	XP_011521612.1:p.Trp159Ter
XR_933417.1:n.596G>A
NM_001739.2:c.477G>A MANE Select	NP_001730.1:p.Trp159Ter
XM_011523309.2:c.477G>A	XP_011521611.1:p.Trp159Ter
XM_017023646.1:c.477G>A	XP_016879135.1:p.Trp159Ter
XM_024450434.1:c.99G>A	XP_024306202.1:p.Trp33Ter
XR_002957839.1:n.602G>A
NM_001367225.1:c.477G>A	NP_001354154.1:p.Trp159Ter
NR_159798.1:n.556G>A
NR_159799.1:n.437G>A