Canonical Allele Identifier: CA493026651

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1638914
• ClinVar RCV Id: RCV002150556
• dbSNP Id: rs2141863968
• gnomAD v3: 16-1362622-G-A
• gnomAD v4: 16-1362622-G-A
• MyVariant Identifiers: chr16:g.1412623G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362622G>A , CM000678.2:g.1362622G>A	GRCh38
NC_000016.9:g.1412623G>A , CM000678.1:g.1412623G>A	GRCh37
NC_000016.8:g.1352624G>A	NCBI36
NG_016985.1:g.15724G>A
NG_033129.1:g.57083C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.720G>A
ENST00000529110.2:c.705G>A	ENSP00000435349.2:p.Lys235=
ENST00000529957.6:n.679G>A
ENST00000683366.1:c.*353G>A	ENSP00000507283.1:n.*353G>A
ENST00000683887.1:c.669G>A	ENSP00000506886.1:p.Lys223=
ENST00000684100.1:n.615G>A
ENST00000684126.1:n.755G>A
ENST00000684688.1:n.1246G>A
ENST00000204679.9:c.621G>A MANE Select	ENSP00000204679.4:p.Lys207=
ENST00000204679.8:c.621G>A	ENSP00000204679.4:p.Lys207=
ENST00000527076.1:n.1844G>A
ENST00000527168.5:n.788G>A
ENST00000529957.5:n.720G>A
NM_032520.4:c.621G>A	NP_115909.1:p.Lys207=
XM_017023782.1:c.669G>A	XP_016879271.1:p.Lys223=
XM_017023783.1:c.261G>A	XP_016879272.1:p.Lys87=
NM_032520.5:c.621G>A MANE Select	NP_115909.1:p.Lys207=