Canonical Allele Identifier: CA397100991
Community Standard Title: NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856763C>A , CM000678.2:g.88856763C>A GRCh38
NC_000016.9:g.88923171C>A , CM000678.1:g.88923171C>A GRCh37
NC_000016.8:g.87450672C>A NCBI36
NG_008667.1:g.5204G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000512.5:c.115G>T (GALNS) MANE Select NP_000503.1:p.Asp39Tyr
ENST00000268695.10:c.115G>T (GALNS) MANE Select ENSP00000268695.5:p.Asp39Tyr
NM_000512.4:c.115G>T (GALNS) NP_000503.1:p.Asp39Tyr
NM_001323543.1:c.-317G>T (GALNS) NP_001310472.1:n.-317G>T
NM_001323543.2:c.-317G>T (GALNS) NP_001310472.1:n.-317G>T
NM_001323544.1:c.-38G>T (GALNS) NP_001310473.1:n.-38G>T
NM_001323544.2:c.-38G>T (GALNS) NP_001310473.1:n.-38G>T
NR_134671.1:n.27+517C>A (TRAPPC2L)
NR_134671.2:n.27+517C>A (TRAPPC2L)
ENST00000268695.9:c.115G>T (GALNS) ENSP00000268695.5:p.Asp39Tyr
ENST00000564365.5:c.-398+517C>A (TRAPPC2L) ENSP00000455447.1:n.-398+517C>A
ENST00000565364.1:n.80G>T (GALNS)
ENST00000567525.5:c.64G>T (GALNS) ENSP00000454484.1:p.Asp22Tyr
ENST00000568311.1:c.115G>T (GALNS) ENSP00000455006.1:p.Asp39Tyr
ENST00000568613.5:c.64G>T (GALNS) ENSP00000457921.1:p.Asp22Tyr
ENST00000569433.1:c.115G>T (GALNS) ENSP00000456884.1:p.Asp39Tyr
XM_005256301.2:c.115G>T (GALNS) XP_005256358.1:p.Asp39Tyr
XM_005256301.3:c.115G>T (GALNS) XP_005256358.1:p.Asp39Tyr
XM_005256302.1:c.-38G>T (GALNS) XP_005256359.1:n.-38G>T
XM_011522982.1:c.-38G>T (GALNS) XP_011521284.1:n.-38G>T
XM_011522982.2:c.-38G>T (GALNS) XP_011521284.1:n.-38G>T
XM_011522984.1:c.-38G>T (GALNS) XP_011521286.1:n.-38G>T
XM_017023113.1:c.-317G>T (GALNS) XP_016878602.1:n.-317G>T