Canonical Allele Identifier: CA8223394

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87901974G>A , CM000678.2:g.87901974G>A	GRCh38
NC_000016.9:g.87935580G>A , CM000678.1:g.87935580G>A	GRCh37
NC_000016.8:g.86493081G>A	NCBI36
NG_033227.1:g.39533C>T
NG_033227.2:g.39556C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001739.2:c.556C>T MANE Select	NP_001730.1:p.Leu186Phe
ENST00000649794.3:c.556C>T MANE Select	ENSP00000498065.2:p.Leu186Phe
NM_001367225.1:c.556C>T	NP_001354154.1:p.Leu186Phe
NM_001739.1:c.556C>T	NP_001730.1:p.Leu186Phe
NR_159798.1:n.635C>T
NR_159799.1:n.516C>T
ENST00000309893.3:c.556C>T	ENSP00000309649.2:p.Leu186Phe
ENST00000648022.1:c.556C>T	ENSP00000497934.1:p.Leu186Phe
ENST00000648177.1:c.436+451C>T	ENSP00000497626.1:n.436+451C>T
ENST00000649158.1:c.556C>T	ENSP00000496993.1:p.Leu186Phe
XM_011523309.1:c.556C>T	XP_011521611.1:p.Leu186Phe
XM_011523309.2:c.556C>T	XP_011521611.1:p.Leu186Phe
XM_011523310.1:c.556C>T	XP_011521612.1:p.Leu186Phe
XM_017023646.1:c.556C>T	XP_016879135.1:p.Leu186Phe
XM_024450434.1:c.178C>T	XP_024306202.1:p.Leu60Phe
XR_002957839.1:n.681C>T
XR_933417.1:n.675C>T