Canonical Allele Identifier: CA394187028

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411944G>C (hg19) ; chr16:g.1361943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361943G>C , CM000678.2:g.1361943G>C	GRCh38
NC_000016.9:g.1411944G>C , CM000678.1:g.1411944G>C	GRCh37
NC_000016.8:g.1351945G>C	NCBI36
NG_016985.1:g.15045G>C
NG_033129.1:g.57762C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.404G>C
ENST00000529110.2:c.389G>C	ENSP00000435349.2:p.Ser130Thr
ENST00000529957.6:n.363G>C
ENST00000683366.1:c.*37G>C	ENSP00000507283.1:n.*37G>C
ENST00000683887.1:c.353G>C	ENSP00000506886.1:p.Ser118Thr
ENST00000684100.1:n.299G>C
ENST00000684126.1:n.363G>C
ENST00000684688.1:n.930G>C
ENST00000204679.9:c.305G>C MANE Select	ENSP00000204679.4:p.Ser102Thr
ENST00000204679.8:c.305G>C	ENSP00000204679.4:p.Ser102Thr
ENST00000526820.5:c.*207G>C	ENSP00000434413.1:n.*207G>C
ENST00000527076.1:n.1321G>C
ENST00000527168.5:n.341G>C
ENST00000529110.1:c.372G>C
ENST00000529957.5:n.404G>C
NM_032520.4:c.305G>C	NP_115909.1:p.Ser102Thr
XM_017023782.1:c.353G>C	XP_016879271.1:p.Ser118Thr
XM_017023783.1:c.-56G>C	XP_016879272.1:n.-56G>C
NM_032520.5:c.305G>C MANE Select	NP_115909.1:p.Ser102Thr