Canonical Allele Identifier: CA397040843
Community Standard Title: NM_001739.2(CA5A):c.618+1G>T
Gene: CA5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87901911C>A , CM000678.2:g.87901911C>A GRCh38
NC_000016.9:g.87935517C>A , CM000678.1:g.87935517C>A GRCh37
NC_000016.8:g.86493018C>A NCBI36
NG_033227.1:g.39596G>T
NG_033227.2:g.39619G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001739.2:c.618+1G>T MANE Select NP_001730.1:n.618+1G>T
ENST00000649794.3:c.618+1G>T MANE Select ENSP00000498065.2:n.618+1G>T
NM_001367225.1:c.618+1G>T NP_001354154.1:n.618+1G>T
NM_001739.1:c.618+1G>T NP_001730.1:n.618+1G>T
NR_159798.1:n.697+1G>T
NR_159799.1:n.578+1G>T
ENST00000309893.3:c.618+1G>T ENSP00000309649.2:n.618+1G>T
ENST00000648022.1:c.618+1G>T ENSP00000497934.1:n.618+1G>T
ENST00000648177.1:c.436+514G>T ENSP00000497626.1:n.436+514G>T
ENST00000649158.1:c.618+1G>T ENSP00000496993.1:n.618+1G>T
XM_011523309.1:c.618+1G>T XP_011521611.1:n.618+1G>T
XM_011523309.2:c.618+1G>T XP_011521611.1:n.618+1G>T
XM_011523310.1:c.618+1G>T XP_011521612.1:n.618+1G>T
XM_017023646.1:c.618+1G>T XP_016879135.1:n.618+1G>T
XM_024450434.1:c.240+1G>T XP_024306202.1:n.240+1G>T
XR_002957839.1:n.743+1G>T
XR_933417.1:n.737+1G>T