Canonical Allele Identifier: CA8235420
Community Standard Title: NM_000512.5(GALNS):c.1A>T (p.Met1Leu)
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856877T>A , CM000678.2:g.88856877T>A GRCh38
NC_000016.9:g.88923285T>A , CM000678.1:g.88923285T>A GRCh37
NC_000016.8:g.87450786T>A NCBI36
NG_008667.1:g.5090A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000512.5:c.1A>T (GALNS) MANE Select NP_000503.1:p.Met1Leu
ENST00000268695.10:c.1A>T (GALNS) MANE Select ENSP00000268695.5:p.Met1Leu
NM_000512.4:c.1A>T (GALNS) NP_000503.1:p.Met1Leu
NM_001323543.1:c.-431A>T (GALNS) NP_001310472.1:n.-431A>T
NM_001323543.2:c.-431A>T (GALNS) NP_001310472.1:n.-431A>T
NM_001323544.1:c.-152A>T (GALNS) NP_001310473.1:n.-152A>T
NM_001323544.2:c.-152A>T (GALNS) NP_001310473.1:n.-152A>T
NR_134671.1:n.27+631T>A (TRAPPC2L)
NR_134671.2:n.27+631T>A (TRAPPC2L)
ENST00000268695.9:c.1A>T (GALNS) ENSP00000268695.5:p.Met1Leu
ENST00000564365.5:c.-398+631T>A (TRAPPC2L) ENSP00000455447.1:n.-398+631T>A
ENST00000568311.1:c.1A>T (GALNS) ENSP00000455006.1:p.Met1Leu
ENST00000569433.1:c.1A>T (GALNS) ENSP00000456884.1:p.Met1Leu
XM_005256301.2:c.1A>T (GALNS) XP_005256358.1:p.Met1Leu
XM_005256301.3:c.1A>T (GALNS) XP_005256358.1:p.Met1Leu
XM_017023113.1:c.-431A>T (GALNS) XP_016878602.1:n.-431A>T