Canonical Allele Identifier: CA394187021

Gene: GNPTG

Linked Data

• dbSNP Id: rs749320662
• MyVariant Identifiers: chr16:g.1411943A>C (hg19) ; chr16:g.1361942A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361942A>C , CM000678.2:g.1361942A>C	GRCh38
NC_000016.9:g.1411943A>C , CM000678.1:g.1411943A>C	GRCh37
NC_000016.8:g.1351944A>C	NCBI36
NG_016985.1:g.15044A>C
NG_033129.1:g.57763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.403A>C
ENST00000529110.2:c.388A>C	ENSP00000435349.2:p.Ser130Arg
ENST00000529957.6:n.362A>C
ENST00000683366.1:c.*36A>C	ENSP00000507283.1:n.*36A>C
ENST00000683887.1:c.352A>C	ENSP00000506886.1:p.Ser118Arg
ENST00000684100.1:n.298A>C
ENST00000684126.1:n.362A>C
ENST00000684688.1:n.929A>C
ENST00000204679.9:c.304A>C MANE Select	ENSP00000204679.4:p.Ser102Arg
ENST00000204679.8:c.304A>C	ENSP00000204679.4:p.Ser102Arg
ENST00000526820.5:c.*206A>C	ENSP00000434413.1:n.*206A>C
ENST00000527076.1:n.1320A>C
ENST00000527168.5:n.340A>C
ENST00000529110.1:c.371A>C
ENST00000529957.5:n.403A>C
NM_032520.4:c.304A>C	NP_115909.1:p.Ser102Arg
XM_017023782.1:c.352A>C	XP_016879271.1:p.Ser118Arg
XM_017023783.1:c.-57A>C	XP_016879272.1:n.-57A>C
NM_032520.5:c.304A>C MANE Select	NP_115909.1:p.Ser102Arg