Canonical Allele Identifier: CA2201615218
Gene: GNPTG HGNC NCBI

Linked Data

dbSNP Id: rs781057196

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362558C>A , CM000678.2:g.1362558C>A GRCh38
NC_000016.9:g.1412559C>A , CM000678.1:g.1412559C>A GRCh37
NC_000016.8:g.1352560C>A NCBI36
NG_016985.1:g.15660C>A
NG_033129.1:g.57147G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.708+24C>A
ENST00000529110.2:c.693+24C>A ENSP00000435349.2:n.693+24C>A
ENST00000529957.6:n.667+24C>A
ENST00000683366.1:c.*341+24C>A ENSP00000507283.1:n.*341+24C>A
ENST00000683887.1:c.657+24C>A ENSP00000506886.1:n.657+24C>A
ENST00000684100.1:n.603+24C>A
ENST00000684126.1:n.691C>A
ENST00000684688.1:n.1234+24C>A
ENST00000204679.9:c.609+24C>A MANE Select ENSP00000204679.4:n.609+24C>A
ENST00000204679.8:c.609+24C>A ENSP00000204679.4:n.609+24C>A
ENST00000527076.1:n.1780C>A
ENST00000527168.5:n.776+24C>A
ENST00000529957.5:n.708+24C>A
NM_032520.4:c.609+24C>A NP_115909.1:n.609+24C>A
XM_017023782.1:c.657+24C>A XP_016879271.1:n.657+24C>A
XM_017023783.1:c.249+24C>A XP_016879272.1:n.249+24C>A
NM_032520.5:c.609+24C>A MANE Select NP_115909.1:n.609+24C>A