Canonical Allele Identifier: CA397041818

Gene: CA5A

Linked Data

• gnomAD v4: 16-87902469-C-G
• MyVariant Identifiers: chr16:g.87936075C>G (hg19) ; chr16:g.87902469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902469C>G , CM000678.2:g.87902469C>G	GRCh38
NC_000016.9:g.87936075C>G , CM000678.1:g.87936075C>G	GRCh37
NC_000016.8:g.86493576C>G	NCBI36
NG_033227.1:g.39038G>C
NG_033227.2:g.39061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.511G>C	ENSP00000497934.1:p.Val171Leu
ENST00000648177.1:c.392G>C	ENSP00000497626.1:p.Cys131Ser
ENST00000649158.1:c.511G>C	ENSP00000496993.1:p.Val171Leu
ENST00000649794.3:c.511G>C MANE Select	ENSP00000498065.2:p.Val171Leu
ENST00000309893.3:c.511G>C	ENSP00000309649.2:p.Val171Leu
NM_001739.1:c.511G>C	NP_001730.1:p.Val171Leu
XM_011523309.1:c.511G>C	XP_011521611.1:p.Val171Leu
XM_011523310.1:c.511G>C	XP_011521612.1:p.Val171Leu
XR_933417.1:n.630G>C
NM_001739.2:c.511G>C MANE Select	NP_001730.1:p.Val171Leu
XM_011523309.2:c.511G>C	XP_011521611.1:p.Val171Leu
XM_017023646.1:c.511G>C	XP_016879135.1:p.Val171Leu
XM_024450434.1:c.133G>C	XP_024306202.1:p.Val45Leu
XR_002957839.1:n.636G>C
NM_001367225.1:c.511G>C	NP_001354154.1:p.Val171Leu
NR_159798.1:n.590G>C
NR_159799.1:n.471G>C