Canonical Allele Identifier: CA2201613690
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361716T= , CM000678.2:g.1361716T= GRCh38
NC_000016.9:g.1411717T= , CM000678.1:g.1411717T= GRCh37
NC_000016.8:g.1351718T= NCBI36
NG_016985.1:g.14818T=
NG_033129.1:g.57989A=

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.278-27T=
ENST00000529110.2:c.263-27T= ENSP00000435349.2:n.263-27T=
ENST00000529957.6:n.237-27T=
ENST00000683366.1:c.179-156T= ENSP00000507283.1:n.179-156T=
ENST00000683887.1:c.200T= ENSP00000506886.1:p.Leu67=
ENST00000684100.1:n.72T=
ENST00000684126.1:n.237-27T=
ENST00000684688.1:n.777T=
ENST00000204679.9:c.179-27T= MANE Select ENSP00000204679.4:n.179-27T=
ENST00000204679.8:c.179-27T= ENSP00000204679.4:n.179-27T=
ENST00000526820.5:c.*81-27T= ENSP00000434413.1:n.*81-27T=
ENST00000527076.1:n.1094T=
ENST00000527168.5:n.270-156T=
ENST00000529110.1:c.246-27T=
ENST00000529957.5:n.278-27T=
NM_032520.4:c.179-27T= NP_115909.1:n.179-27T=
XM_017023782.1:c.200T= XP_016879271.1:p.Leu67=
XM_017023783.1:c.-182-27T= XP_016879272.1:n.-182-27T=
NM_032520.5:c.179-27T= MANE Select NP_115909.1:n.179-27T=