Canonical Allele Identifier: CA7807579

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2581192
• ClinVar RCV Id: RCV003331597
• dbSNP Id: rs201531462
• ExAC: 16:1411916 G / A
• gnomAD v2: 16-1411916-G-A
• gnomAD v3: 16-1361915-G-A
• gnomAD v4: 16-1361915-G-A
• MyVariant Identifiers: chr16:g.1411916G>A (hg19) ; chr16:g.1361915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361915G>A , CM000678.2:g.1361915G>A	GRCh38
NC_000016.9:g.1411916G>A , CM000678.1:g.1411916G>A	GRCh37
NC_000016.8:g.1351917G>A	NCBI36
NG_016985.1:g.15017G>A
NG_033129.1:g.57790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.376G>A
ENST00000529110.2:c.361G>A	ENSP00000435349.2:p.Glu121Lys
ENST00000529957.6:n.335G>A
ENST00000683366.1:c.*9G>A	ENSP00000507283.1:n.*9G>A
ENST00000683887.1:c.325G>A	ENSP00000506886.1:p.Glu109Lys
ENST00000684100.1:n.271G>A
ENST00000684126.1:n.335G>A
ENST00000684688.1:n.902G>A
ENST00000204679.9:c.277G>A MANE Select	ENSP00000204679.4:p.Glu93Lys
ENST00000204679.8:c.277G>A	ENSP00000204679.4:p.Glu93Lys
ENST00000526820.5:c.*179G>A	ENSP00000434413.1:n.*179G>A
ENST00000527076.1:n.1293G>A
ENST00000527168.5:n.313G>A
ENST00000529110.1:c.344G>A
ENST00000529957.5:n.376G>A
NM_032520.4:c.277G>A	NP_115909.1:p.Glu93Lys
XM_017023782.1:c.325G>A	XP_016879271.1:p.Glu109Lys
XM_017023783.1:c.-84G>A	XP_016879272.1:n.-84G>A
NM_032520.5:c.277G>A MANE Select	NP_115909.1:p.Glu93Lys