Canonical Allele Identifier: CA394187346

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034900383
• MyVariant Identifiers: chr16:g.1412113C>T (hg19) ; chr16:g.1362112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362112C>T , CM000678.2:g.1362112C>T	GRCh38
NC_000016.9:g.1412113C>T , CM000678.1:g.1412113C>T	GRCh37
NC_000016.8:g.1352114C>T	NCBI36
NG_016985.1:g.15214C>T
NG_033129.1:g.57593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.491C>T
ENST00000529110.2:c.476C>T	ENSP00000435349.2:p.Ser159Phe
ENST00000529957.6:n.450C>T
ENST00000683366.1:c.*124C>T	ENSP00000507283.1:n.*124C>T
ENST00000683887.1:c.440C>T	ENSP00000506886.1:p.Ser147Phe
ENST00000684100.1:n.386C>T
ENST00000684126.1:n.450C>T
ENST00000684688.1:n.1017C>T
ENST00000204679.9:c.392C>T MANE Select	ENSP00000204679.4:p.Ser131Phe
ENST00000204679.8:c.392C>T	ENSP00000204679.4:p.Ser131Phe
ENST00000526820.5:c.*294C>T	ENSP00000434413.1:n.*294C>T
ENST00000527076.1:n.1408C>T
ENST00000527168.5:n.428C>T
ENST00000529110.1:c.459C>T
ENST00000529957.5:n.491C>T
NM_032520.4:c.392C>T	NP_115909.1:p.Ser131Phe
XM_017023782.1:c.440C>T	XP_016879271.1:p.Ser147Phe
XM_017023783.1:c.32C>T	XP_016879272.1:p.Ser11Phe
NM_032520.5:c.392C>T MANE Select	NP_115909.1:p.Ser131Phe