Canonical Allele Identifier: CA493026439

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411873G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361872G>C , CM000678.2:g.1361872G>C	GRCh38
NC_000016.9:g.1411873G>C , CM000678.1:g.1411873G>C	GRCh37
NC_000016.8:g.1351874G>C	NCBI36
NG_016985.1:g.14974G>C
NG_033129.1:g.57833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333G>C
ENST00000529110.2:c.318G>C	ENSP00000435349.2:p.Thr106=
ENST00000529957.6:n.292G>C
ENST00000683366.1:c.179G>C	ENSP00000507283.1:p.Gly60Ala
ENST00000683887.1:c.282G>C	ENSP00000506886.1:p.Thr94=
ENST00000684100.1:n.228G>C
ENST00000684126.1:n.292G>C
ENST00000684688.1:n.859G>C
ENST00000204679.9:c.234G>C MANE Select	ENSP00000204679.4:p.Thr78=
ENST00000204679.8:c.234G>C	ENSP00000204679.4:p.Thr78=
ENST00000526820.5:c.*136G>C	ENSP00000434413.1:n.*136G>C
ENST00000527076.1:n.1250G>C
ENST00000527168.5:n.270G>C
ENST00000529110.1:c.301G>C
ENST00000529957.5:n.333G>C
NM_032520.4:c.234G>C	NP_115909.1:p.Thr78=
XM_017023782.1:c.282G>C	XP_016879271.1:p.Thr94=
XM_017023783.1:c.-127G>C	XP_016879272.1:n.-127G>C
NM_032520.5:c.234G>C MANE Select	NP_115909.1:p.Thr78=