Canonical Allele Identifier: CA286246172

Gene: CA5A

Linked Data

• dbSNP Id: rs571439493
• gnomAD v2: 16-87936414-A-G
• gnomAD v3: 16-87902808-A-G
• gnomAD v4: 16-87902808-A-G
• MyVariant Identifiers: chr16:g.87936414A>G (hg19) ; chr16:g.87902808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902808A>G , CM000678.2:g.87902808A>G	GRCh38
NC_000016.9:g.87936414A>G , CM000678.1:g.87936414A>G	GRCh37
NC_000016.8:g.86493915A>G	NCBI36
NG_033227.1:g.38699T>C
NG_033227.2:g.38722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.460-288T>C	ENSP00000497934.1:n.460-288T>C
ENST00000648177.1:c.341-288T>C	ENSP00000497626.1:n.341-288T>C
ENST00000649158.1:c.460-288T>C	ENSP00000496993.1:n.460-288T>C
ENST00000649794.3:c.460-288T>C MANE Select	ENSP00000498065.2:n.460-288T>C
ENST00000309893.3:c.460-288T>C	ENSP00000309649.2:n.460-288T>C
NM_001739.1:c.460-288T>C	NP_001730.1:n.460-288T>C
XM_011523309.1:c.460-288T>C	XP_011521611.1:n.460-288T>C
XM_011523310.1:c.460-288T>C	XP_011521612.1:n.460-288T>C
XR_933417.1:n.579-288T>C
NM_001739.2:c.460-288T>C MANE Select	NP_001730.1:n.460-288T>C
XM_011523309.2:c.460-288T>C	XP_011521611.1:n.460-288T>C
XM_017023646.1:c.460-288T>C	XP_016879135.1:n.460-288T>C
XM_024450434.1:c.82-288T>C	XP_024306202.1:n.82-288T>C
XR_002957839.1:n.585-288T>C
NM_001367225.1:c.460-288T>C	NP_001354154.1:n.460-288T>C
NR_159798.1:n.539-288T>C
NR_159799.1:n.420-288T>C