Canonical Allele Identifier: CA8223304

Gene: CA5A

Linked Data

• ClinVar Variation Id: 388645
• ClinVar RCV Id: RCV000440896 ; RCV000681608
• dbSNP Id: rs563971993
• ExAC: 16:87925458 C / T
• gnomAD v2: 16-87925458-C-T
• gnomAD v3: 16-87891852-C-T
• gnomAD v4: 16-87891852-C-T
• MyVariant Identifiers: chr16:g.87925458C>T (hg19) ; chr16:g.87891852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87891852C>T , CM000678.2:g.87891852C>T	GRCh38
NC_000016.9:g.87925458C>T , CM000678.1:g.87925458C>T	GRCh37
NC_000016.8:g.86482959C>T	NCBI36
NG_033227.1:g.49655G>A
NG_033227.2:g.49678G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.*160G>A	ENSP00000497934.1:n.*160G>A
ENST00000648177.1:c.539G>A	ENSP00000497626.1:p.Arg180Gln
ENST00000649158.1:c.721G>A	ENSP00000496993.1:p.Glu241Lys
ENST00000649794.3:c.721G>A MANE Select	ENSP00000498065.2:p.Glu241Lys
ENST00000309893.3:c.721G>A	ENSP00000309649.2:p.Glu241Lys
ENST00000566402.2:n.417G>A
NM_001739.1:c.721G>A	NP_001730.1:p.Glu241Lys
NM_001739.2:c.721G>A MANE Select	NP_001730.1:p.Glu241Lys
XM_017023646.1:c.721G>A	XP_016879135.1:p.Glu241Lys
XM_024450434.1:c.343G>A	XP_024306202.1:p.Glu115Lys
XR_002957839.1:n.954G>A
NM_001367225.1:c.721G>A	NP_001354154.1:p.Glu241Lys
NR_159798.1:n.908G>A
NR_159799.1:n.681G>A