Canonical Allele Identifier: CA394183947

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1352018G>C , CM000678.2:g.1352018G>C	GRCh38
NC_000016.9:g.1402019G>C , CM000678.1:g.1402019G>C	GRCh37
NC_000016.8:g.1342020G>C	NCBI36
NG_016985.1:g.5120G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.52+1G>C MANE Select	NP_115909.1:n.52+1G>C
ENST00000204679.9:c.52+1G>C MANE Select	ENSP00000204679.4:n.52+1G>C
NM_032520.4:c.52+1G>C	NP_115909.1:n.52+1G>C
ENST00000204679.8:c.52+1G>C	ENSP00000204679.4:n.52+1G>C
ENST00000526820.5:c.52+1G>C	ENSP00000434413.1:n.52+1G>C
ENST00000527137.2:c.52+1G>C	ENSP00000480060.1:n.52+1G>C
ENST00000527168.5:n.64+1G>C
ENST00000527168.6:n.72+1G>C
ENST00000527876.5:c.52+1G>C	ENSP00000460728.1:n.52+1G>C
ENST00000529110.1:c.36G>C
ENST00000529110.2:c.53G>C	ENSP00000435349.2:p.Gly18Ala
ENST00000529957.5:n.72+1G>C
ENST00000534197.5:n.70+1G>C
ENST00000683366.1:c.52+1G>C	ENSP00000507283.1:n.52+1G>C
ENST00000683887.1:c.52+1G>C	ENSP00000506886.1:n.52+1G>C
XM_017023782.1:c.52+1G>C	XP_016879271.1:n.52+1G>C