Canonical Allele Identifier: CA7807457

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1352100A>G , CM000678.2:g.1352100A>G	GRCh38
NC_000016.9:g.1402101A>G , CM000678.1:g.1402101A>G	GRCh37
NC_000016.8:g.1342102A>G	NCBI36
NG_016985.1:g.5202A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.53-2A>G MANE Select	NP_115909.1:n.53-2A>G
ENST00000204679.9:c.53-2A>G MANE Select	ENSP00000204679.4:n.53-2A>G
NM_032520.4:c.53-2A>G	NP_115909.1:n.53-2A>G
ENST00000204679.8:c.53-2A>G	ENSP00000204679.4:n.53-2A>G
ENST00000526820.5:c.53-2A>G	ENSP00000434413.1:n.53-2A>G
ENST00000527137.2:c.53-2A>G	ENSP00000480060.1:n.53-2A>G
ENST00000527168.5:n.65-2A>G
ENST00000527168.6:n.73-2A>G
ENST00000527876.5:c.53-2A>G	ENSP00000460728.1:n.53-2A>G
ENST00000529110.1:c.118A>G
ENST00000529110.2:c.135A>G	ENSP00000435349.2:p.Val45=
ENST00000529957.5:n.73-2A>G
ENST00000529957.6:n.30A>G
ENST00000534197.5:n.71-2A>G
ENST00000683366.1:c.53-2A>G	ENSP00000507283.1:n.53-2A>G
ENST00000683887.1:c.53-2A>G	ENSP00000506886.1:n.53-2A>G
ENST00000684126.1:n.30A>G
XM_017023782.1:c.53-2A>G	XP_016879271.1:n.53-2A>G