Canonical Allele Identifier: CA7807491

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1352289A>T , CM000678.2:g.1352289A>T	GRCh38
NC_000016.9:g.1402290A>T , CM000678.1:g.1402290A>T	GRCh37
NC_000016.8:g.1342291A>T	NCBI36
NG_016985.1:g.5391A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.161A>T MANE Select	NP_115909.1:p.Asp54Val
ENST00000204679.9:c.161A>T MANE Select	ENSP00000204679.4:p.Asp54Val
NM_032520.4:c.161A>T	NP_115909.1:p.Asp54Val
ENST00000204679.8:c.161A>T	ENSP00000204679.4:p.Asp54Val
ENST00000526820.5:c.161A>T	ENSP00000434413.1:p.Asp54Val
ENST00000527137.2:c.161A>T	ENSP00000480060.1:p.Asp54Val
ENST00000527168.5:n.252A>T
ENST00000527168.6:n.260A>T
ENST00000527876.5:c.161A>T	ENSP00000460728.1:p.Asp54Val
ENST00000529110.1:c.228A>T
ENST00000529110.2:c.245A>T	ENSP00000435349.2:p.Asp82Val
ENST00000529957.5:n.260A>T
ENST00000529957.6:n.219A>T
ENST00000534197.5:n.258A>T
ENST00000683366.1:c.161A>T	ENSP00000507283.1:p.Asp54Val
ENST00000683887.1:c.161A>T	ENSP00000506886.1:p.Asp54Val
ENST00000684126.1:n.219A>T
XM_017023782.1:c.161A>T	XP_016879271.1:p.Asp54Val