Canonical Allele Identifier: CA397042023

Gene: CA5A

Linked Data

• gnomAD v4: 16-87902519-A-G
• MyVariant Identifiers: chr16:g.87936125A>G (hg19) ; chr16:g.87902519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902519A>G , CM000678.2:g.87902519A>G	GRCh38
NC_000016.9:g.87936125A>G , CM000678.1:g.87936125A>G	GRCh37
NC_000016.8:g.86493626A>G	NCBI36
NG_033227.1:g.38988T>C
NG_033227.2:g.39011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.461T>C	ENSP00000497934.1:p.Leu154Pro
ENST00000648177.1:c.342T>C	ENSP00000497626.1:p.Ala114=
ENST00000649158.1:c.461T>C	ENSP00000496993.1:p.Leu154Pro
ENST00000649794.3:c.461T>C MANE Select	ENSP00000498065.2:p.Leu154Pro
ENST00000309893.3:c.461T>C	ENSP00000309649.2:p.Leu154Pro
NM_001739.1:c.461T>C	NP_001730.1:p.Leu154Pro
XM_011523309.1:c.461T>C	XP_011521611.1:p.Leu154Pro
XM_011523310.1:c.461T>C	XP_011521612.1:p.Leu154Pro
XR_933417.1:n.580T>C
NM_001739.2:c.461T>C MANE Select	NP_001730.1:p.Leu154Pro
XM_011523309.2:c.461T>C	XP_011521611.1:p.Leu154Pro
XM_017023646.1:c.461T>C	XP_016879135.1:p.Leu154Pro
XM_024450434.1:c.83T>C	XP_024306202.1:p.Leu28Pro
XR_002957839.1:n.586T>C
NM_001367225.1:c.461T>C	NP_001354154.1:p.Leu154Pro
NR_159798.1:n.540T>C
NR_159799.1:n.421T>C