Canonical Allele Identifier: CA2201613578
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361613C= , CM000678.2:g.1361613C= GRCh38
NC_000016.9:g.1411614C= , CM000678.1:g.1411614C= GRCh37
NC_000016.8:g.1351615C= NCBI36
NG_016985.1:g.14715C=
NG_033129.1:g.58092G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.278-130C=
ENST00000529110.2:c.263-130C= ENSP00000435349.2:n.263-130C=
ENST00000529957.6:n.237-130C=
ENST00000683366.1:c.179-259C= ENSP00000507283.1:n.179-259C=
ENST00000683887.1:c.179-82C= ENSP00000506886.1:n.179-82C=
ENST00000684126.1:n.237-130C=
ENST00000684688.1:n.674C=
ENST00000204679.9:c.179-130C= MANE Select ENSP00000204679.4:n.179-130C=
ENST00000204679.8:c.179-130C= ENSP00000204679.4:n.179-130C=
ENST00000526820.5:c.*81-130C= ENSP00000434413.1:n.*81-130C=
ENST00000527076.1:n.991C=
ENST00000527168.5:n.270-259C=
ENST00000529110.1:c.246-130C=
ENST00000529957.5:n.278-130C=
NM_032520.4:c.179-130C= NP_115909.1:n.179-130C=
XM_017023782.1:c.179-82C= XP_016879271.1:n.179-82C=
XM_017023783.1:c.-182-130C= XP_016879272.1:n.-182-130C=
NM_032520.5:c.179-130C= MANE Select NP_115909.1:n.179-130C=