Canonical Allele Identifier: CA2201614395
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362014C= , CM000678.2:g.1362014C= GRCh38
NC_000016.9:g.1412015C= , CM000678.1:g.1412015C= GRCh37
NC_000016.8:g.1352016C= NCBI36
NG_016985.1:g.15116C=
NG_033129.1:g.57691G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.417-24C=
ENST00000529110.2:c.402-24C= ENSP00000435349.2:n.402-24C=
ENST00000529957.6:n.376-24C=
ENST00000683366.1:c.*50-24C= ENSP00000507283.1:n.*50-24C=
ENST00000683887.1:c.366-24C= ENSP00000506886.1:n.366-24C=
ENST00000684100.1:n.312-24C=
ENST00000684126.1:n.376-24C=
ENST00000684688.1:n.943-24C=
ENST00000204679.9:c.318-24C= MANE Select ENSP00000204679.4:n.318-24C=
ENST00000204679.8:c.318-24C= ENSP00000204679.4:n.318-24C=
ENST00000526820.5:c.*220-24C= ENSP00000434413.1:n.*220-24C=
ENST00000527076.1:n.1334-24C=
ENST00000527168.5:n.354-24C=
ENST00000529110.1:c.385-24C=
ENST00000529957.5:n.417-24C=
NM_032520.4:c.318-24C= NP_115909.1:n.318-24C=
XM_017023782.1:c.366-24C= XP_016879271.1:n.366-24C=
XM_017023783.1:c.-43-24C= XP_016879272.1:n.-43-24C=
NM_032520.5:c.318-24C= MANE Select NP_115909.1:n.318-24C=