Canonical Allele Identifier: CA915946206

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 761061
• ClinVar RCV Id: RCV000939068
• dbSNP Id: rs1596614122
• gnomAD v4: 16-1362196-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362196C>T , CM000678.2:g.1362196C>T	GRCh38
NC_000016.9:g.1412197C>T , CM000678.1:g.1412197C>T	GRCh37
NC_000016.8:g.1352198C>T	NCBI36
NG_016985.1:g.15298C>T
NG_033129.1:g.57509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-10C>T
ENST00000529110.2:c.496-10C>T	ENSP00000435349.2:n.496-10C>T
ENST00000529957.6:n.470-10C>T
ENST00000683366.1:c.*144-10C>T	ENSP00000507283.1:n.*144-10C>T
ENST00000683887.1:c.460-10C>T	ENSP00000506886.1:n.460-10C>T
ENST00000684100.1:n.406-10C>T
ENST00000684126.1:n.470-10C>T
ENST00000684688.1:n.1037-10C>T
ENST00000204679.9:c.412-10C>T MANE Select	ENSP00000204679.4:n.412-10C>T
ENST00000204679.8:c.412-10C>T	ENSP00000204679.4:n.412-10C>T
ENST00000527076.1:n.1428-10C>T
ENST00000527168.5:n.448-10C>T
ENST00000529110.1:c.479-10C>T
ENST00000529957.5:n.511-10C>T
NM_032520.4:c.412-10C>T	NP_115909.1:n.412-10C>T
XM_017023782.1:c.460-10C>T	XP_016879271.1:n.460-10C>T
XM_017023783.1:c.52-10C>T	XP_016879272.1:n.52-10C>T
NM_032520.5:c.412-10C>T MANE Select	NP_115909.1:n.412-10C>T