Canonical Allele Identifier: CA394188368

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362535G>C , CM000678.2:g.1362535G>C	GRCh38
NC_000016.9:g.1412536G>C , CM000678.1:g.1412536G>C	GRCh37
NC_000016.8:g.1352537G>C	NCBI36
NG_016985.1:g.15637G>C
NG_033129.1:g.57170C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.609+1G>C MANE Select	NP_115909.1:n.609+1G>C
ENST00000204679.9:c.609+1G>C MANE Select	ENSP00000204679.4:n.609+1G>C
NM_032520.4:c.609+1G>C	NP_115909.1:n.609+1G>C
ENST00000204679.8:c.609+1G>C	ENSP00000204679.4:n.609+1G>C
ENST00000527076.1:n.1757G>C
ENST00000527168.5:n.776+1G>C
ENST00000527168.6:n.708+1G>C
ENST00000529110.2:c.693+1G>C	ENSP00000435349.2:n.693+1G>C
ENST00000529957.5:n.708+1G>C
ENST00000529957.6:n.667+1G>C
ENST00000683366.1:c.*341+1G>C	ENSP00000507283.1:n.*341+1G>C
ENST00000683887.1:c.657+1G>C	ENSP00000506886.1:n.657+1G>C
ENST00000684100.1:n.603+1G>C
ENST00000684126.1:n.668G>C
ENST00000684688.1:n.1234+1G>C
XM_017023782.1:c.657+1G>C	XP_016879271.1:n.657+1G>C
XM_017023783.1:c.249+1G>C	XP_016879272.1:n.249+1G>C