Canonical Allele Identifier: CA493026404

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2071191
• ClinVar RCV Id: RCV002975388
• gnomAD v4: 16-1361789-G-A
• MyVariant Identifiers: chr16:g.1411790G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361789G>A , CM000678.2:g.1361789G>A	GRCh38
NC_000016.9:g.1411790G>A , CM000678.1:g.1411790G>A	GRCh37
NC_000016.8:g.1351791G>A	NCBI36
NG_016985.1:g.14891G>A
NG_033129.1:g.57916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.324G>A
ENST00000529110.2:c.309G>A	ENSP00000435349.2:p.Val103=
ENST00000529957.6:n.283G>A
ENST00000683366.1:c.179-83G>A	ENSP00000507283.1:n.179-83G>A
ENST00000683887.1:c.273G>A	ENSP00000506886.1:p.Val91=
ENST00000684100.1:n.145G>A
ENST00000684126.1:n.283G>A
ENST00000684688.1:n.850G>A
ENST00000204679.9:c.225G>A MANE Select	ENSP00000204679.4:p.Val75=
ENST00000204679.8:c.225G>A	ENSP00000204679.4:p.Val75=
ENST00000526820.5:c.*127G>A	ENSP00000434413.1:n.*127G>A
ENST00000527076.1:n.1167G>A
ENST00000527168.5:n.270-83G>A
ENST00000529110.1:c.292G>A
ENST00000529957.5:n.324G>A
NM_032520.4:c.225G>A	NP_115909.1:p.Val75=
XM_017023782.1:c.273G>A	XP_016879271.1:p.Val91=
XM_017023783.1:c.-136G>A	XP_016879272.1:n.-136G>A
NM_032520.5:c.225G>A MANE Select	NP_115909.1:p.Val75=