Canonical Allele Identifier: CA7807940

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362841C>A , CM000678.2:g.1362841C>A	GRCh38
NC_000016.9:g.1412842C>A , CM000678.1:g.1412842C>A	GRCh37
NC_000016.8:g.1352843C>A	NCBI36
NG_016985.1:g.15943C>A
NG_033129.1:g.56864G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.758C>A MANE Select	NP_115909.1:p.Ser253Ter
ENST00000204679.9:c.758C>A MANE Select	ENSP00000204679.4:p.Ser253Ter
NM_032520.4:c.758C>A	NP_115909.1:p.Ser253Ter
ENST00000204679.8:c.758C>A	ENSP00000204679.4:p.Ser253Ter
ENST00000527076.1:n.1981C>A
ENST00000527168.5:n.925C>A
ENST00000527168.6:n.857C>A
ENST00000529110.2:c.842C>A	ENSP00000435349.2:p.Ser281Ter
ENST00000529957.5:n.857C>A
ENST00000529957.6:n.816C>A
ENST00000683366.1:c.*490C>A	ENSP00000507283.1:n.*490C>A
ENST00000683887.1:c.806C>A	ENSP00000506886.1:p.Ser269Ter
ENST00000684100.1:n.752C>A
ENST00000684126.1:n.892C>A
ENST00000684688.1:n.1383C>A
XM_017023782.1:c.806C>A	XP_016879271.1:p.Ser269Ter
XM_017023783.1:c.398C>A	XP_016879272.1:p.Ser133Ter