Canonical Allele Identifier: CA394187149

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 453175
• ClinVar RCV Id: RCV000523035 ; RCV000667666
• dbSNP Id: rs193302847
• gnomAD v4: 16-1362037-G-A
• MyVariant Identifiers: chr16:g.1412038G>A (hg19) ; chr16:g.1362037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362037G>A , CM000678.2:g.1362037G>A	GRCh38
NC_000016.9:g.1412038G>A , CM000678.1:g.1412038G>A	GRCh37
NC_000016.8:g.1352039G>A	NCBI36
NG_016985.1:g.15139G>A
NG_033129.1:g.57668C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.417-1G>A
ENST00000529110.2:c.402-1G>A	ENSP00000435349.2:n.402-1G>A
ENST00000529957.6:n.376-1G>A
ENST00000683366.1:c.*50-1G>A	ENSP00000507283.1:n.*50-1G>A
ENST00000683887.1:c.366-1G>A	ENSP00000506886.1:n.366-1G>A
ENST00000684100.1:n.312-1G>A
ENST00000684126.1:n.376-1G>A
ENST00000684688.1:n.943-1G>A
ENST00000204679.9:c.318-1G>A MANE Select	ENSP00000204679.4:n.318-1G>A
ENST00000204679.8:c.318-1G>A	ENSP00000204679.4:n.318-1G>A
ENST00000526820.5:c.*220-1G>A	ENSP00000434413.1:n.*220-1G>A
ENST00000527076.1:n.1334-1G>A
ENST00000527168.5:n.354-1G>A
ENST00000529110.1:c.385-1G>A
ENST00000529957.5:n.417-1G>A
NM_032520.4:c.318-1G>A	NP_115909.1:n.318-1G>A
XM_017023782.1:c.366-1G>A	XP_016879271.1:n.366-1G>A
XM_017023783.1:c.-43-1G>A	XP_016879272.1:n.-43-1G>A
NM_032520.5:c.318-1G>A MANE Select	NP_115909.1:n.318-1G>A