Canonical Allele Identifier: CA7807662

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362114C>T , CM000678.2:g.1362114C>T	GRCh38
NC_000016.9:g.1412115C>T , CM000678.1:g.1412115C>T	GRCh37
NC_000016.8:g.1352116C>T	NCBI36
NG_016985.1:g.15216C>T
NG_033129.1:g.57591G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.394C>T MANE Select	NP_115909.1:p.Arg132Trp
ENST00000204679.9:c.394C>T MANE Select	ENSP00000204679.4:p.Arg132Trp
NM_032520.4:c.394C>T	NP_115909.1:p.Arg132Trp
ENST00000204679.8:c.394C>T	ENSP00000204679.4:p.Arg132Trp
ENST00000526820.5:c.*296C>T	ENSP00000434413.1:n.*296C>T
ENST00000527076.1:n.1410C>T
ENST00000527168.5:n.430C>T
ENST00000527168.6:n.493C>T
ENST00000529110.1:c.461C>T
ENST00000529110.2:c.478C>T	ENSP00000435349.2:p.Arg160Trp
ENST00000529957.5:n.493C>T
ENST00000529957.6:n.452C>T
ENST00000683366.1:c.*126C>T	ENSP00000507283.1:n.*126C>T
ENST00000683887.1:c.442C>T	ENSP00000506886.1:p.Arg148Trp
ENST00000684100.1:n.388C>T
ENST00000684126.1:n.452C>T
ENST00000684688.1:n.1019C>T
XM_017023782.1:c.442C>T	XP_016879271.1:p.Arg148Trp
XM_017023783.1:c.34C>T	XP_016879272.1:p.Arg12Trp