Canonical Allele Identifier: CA394184010

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1352110C>A , CM000678.2:g.1352110C>A	GRCh38
NC_000016.9:g.1402111C>A , CM000678.1:g.1402111C>A	GRCh37
NC_000016.8:g.1342112C>A	NCBI36
NG_016985.1:g.5212C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.81C>A
ENST00000529110.2:c.145C>A	ENSP00000435349.2:p.Pro49Thr
ENST00000529957.6:n.40C>A
ENST00000683366.1:c.61C>A	ENSP00000507283.1:p.Pro21Thr
ENST00000683887.1:c.61C>A	ENSP00000506886.1:p.Pro21Thr
ENST00000684126.1:n.40C>A
ENST00000204679.9:c.61C>A MANE Select	ENSP00000204679.4:p.Pro21Thr
ENST00000204679.8:c.61C>A	ENSP00000204679.4:p.Pro21Thr
ENST00000526820.5:c.61C>A	ENSP00000434413.1:p.Pro21Thr
ENST00000527137.2:c.61C>A	ENSP00000480060.1:p.Pro21Thr
ENST00000527168.5:n.73C>A
ENST00000527876.5:c.61C>A	ENSP00000460728.1:p.Pro21Thr
ENST00000529110.1:c.128C>A
ENST00000529957.5:n.81C>A
ENST00000534197.5:n.79C>A
NM_032520.4:c.61C>A	NP_115909.1:p.Pro21Thr
XM_017023782.1:c.61C>A	XP_016879271.1:p.Pro21Thr
NM_032520.5:c.61C>A MANE Select	NP_115909.1:p.Pro21Thr