Canonical Allele Identifier: CA394187084

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411956G>A (hg19) ; chr16:g.1361955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361955G>A , CM000678.2:g.1361955G>A	GRCh38
NC_000016.9:g.1411956G>A , CM000678.1:g.1411956G>A	GRCh37
NC_000016.8:g.1351957G>A	NCBI36
NG_016985.1:g.15057G>A
NG_033129.1:g.57750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416G>A
ENST00000529110.2:c.401G>A	ENSP00000435349.2:p.Gly134Asp
ENST00000529957.6:n.375G>A
ENST00000683366.1:c.*49G>A	ENSP00000507283.1:n.*49G>A
ENST00000683887.1:c.365G>A	ENSP00000506886.1:p.Gly122Asp
ENST00000684100.1:n.311G>A
ENST00000684126.1:n.375G>A
ENST00000684688.1:n.942G>A
ENST00000204679.9:c.317G>A MANE Select	ENSP00000204679.4:p.Gly106Asp
ENST00000204679.8:c.317G>A	ENSP00000204679.4:p.Gly106Asp
ENST00000526820.5:c.*219G>A	ENSP00000434413.1:n.*219G>A
ENST00000527076.1:n.1333G>A
ENST00000527168.5:n.353G>A
ENST00000529110.1:c.384G>A
ENST00000529957.5:n.416G>A
NM_032520.4:c.317G>A	NP_115909.1:p.Gly106Asp
XM_017023782.1:c.365G>A	XP_016879271.1:p.Gly122Asp
XM_017023783.1:c.-44G>A	XP_016879272.1:n.-44G>A
NM_032520.5:c.317G>A MANE Select	NP_115909.1:p.Gly106Asp