Canonical Allele Identifier: CA8223424

Gene: CA5A

Linked Data

• dbSNP Id: rs771471622
• ExAC: 16:87935994 C / T
• gnomAD v2: 16-87935994-C-T
• gnomAD v4: 16-87902388-C-T
• MyVariant Identifiers: chr16:g.87935994C>T (hg19) ; chr16:g.87902388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902388C>T , CM000678.2:g.87902388C>T	GRCh38
NC_000016.9:g.87935994C>T , CM000678.1:g.87935994C>T	GRCh37
NC_000016.8:g.86493495C>T	NCBI36
NG_033227.1:g.39119G>A
NG_033227.2:g.39142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.555+37G>A	ENSP00000497934.1:n.555+37G>A
ENST00000648177.1:c.436+37G>A	ENSP00000497626.1:n.436+37G>A
ENST00000649158.1:c.555+37G>A	ENSP00000496993.1:n.555+37G>A
ENST00000649794.3:c.555+37G>A MANE Select	ENSP00000498065.2:n.555+37G>A
ENST00000309893.3:c.555+37G>A	ENSP00000309649.2:n.555+37G>A
NM_001739.1:c.555+37G>A	NP_001730.1:n.555+37G>A
XM_011523309.1:c.555+37G>A	XP_011521611.1:n.555+37G>A
XM_011523310.1:c.555+37G>A	XP_011521612.1:n.555+37G>A
XR_933417.1:n.674+37G>A
NM_001739.2:c.555+37G>A MANE Select	NP_001730.1:n.555+37G>A
XM_011523309.2:c.555+37G>A	XP_011521611.1:n.555+37G>A
XM_017023646.1:c.555+37G>A	XP_016879135.1:n.555+37G>A
XM_024450434.1:c.177+37G>A	XP_024306202.1:n.177+37G>A
XR_002957839.1:n.680+37G>A
NM_001367225.1:c.555+37G>A	NP_001354154.1:n.555+37G>A
NR_159798.1:n.634+37G>A
NR_159799.1:n.515+37G>A