Canonical Allele Identifier: CA397041118

Gene: CA5A

Linked Data

• dbSNP Id: rs1597554873
• gnomAD v4: 16-87902441-A-G
• MyVariant Identifiers: chr16:g.87936047A>G (hg19) ; chr16:g.87902441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902441A>G , CM000678.2:g.87902441A>G	GRCh38
NC_000016.9:g.87936047A>G , CM000678.1:g.87936047A>G	GRCh37
NC_000016.8:g.86493548A>G	NCBI36
NG_033227.1:g.39066T>C
NG_033227.2:g.39089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.539T>C	ENSP00000497934.1:p.Ile180Thr
ENST00000648177.1:c.420T>C	ENSP00000497626.1:p.Asp140=
ENST00000649158.1:c.539T>C	ENSP00000496993.1:p.Ile180Thr
ENST00000649794.3:c.539T>C MANE Select	ENSP00000498065.2:p.Ile180Thr
ENST00000309893.3:c.539T>C	ENSP00000309649.2:p.Ile180Thr
NM_001739.1:c.539T>C	NP_001730.1:p.Ile180Thr
XM_011523309.1:c.539T>C	XP_011521611.1:p.Ile180Thr
XM_011523310.1:c.539T>C	XP_011521612.1:p.Ile180Thr
XR_933417.1:n.658T>C
NM_001739.2:c.539T>C MANE Select	NP_001730.1:p.Ile180Thr
XM_011523309.2:c.539T>C	XP_011521611.1:p.Ile180Thr
XM_017023646.1:c.539T>C	XP_016879135.1:p.Ile180Thr
XM_024450434.1:c.161T>C	XP_024306202.1:p.Ile54Thr
XR_002957839.1:n.664T>C
NM_001367225.1:c.539T>C	NP_001354154.1:p.Ile180Thr
NR_159798.1:n.618T>C
NR_159799.1:n.499T>C