Canonical Allele Identifier: CA2580090549

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1998454
• ClinVar RCV Id: RCV002810471
• gnomAD v4: 16-1362447-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362447C>T , CM000678.2:g.1362447C>T	GRCh38
NC_000016.9:g.1412448C>T , CM000678.1:g.1412448C>T	GRCh37
NC_000016.8:g.1352449C>T	NCBI36
NG_016985.1:g.15549C>T
NG_033129.1:g.57258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-5C>T
ENST00000529110.2:c.611-5C>T	ENSP00000435349.2:n.611-5C>T
ENST00000529957.6:n.585-5C>T
ENST00000683366.1:c.*259-5C>T	ENSP00000507283.1:n.*259-5C>T
ENST00000683887.1:c.575-5C>T	ENSP00000506886.1:n.575-5C>T
ENST00000684100.1:n.521-5C>T
ENST00000684126.1:n.585-5C>T
ENST00000684688.1:n.1152-5C>T
ENST00000204679.9:c.527-5C>T MANE Select	ENSP00000204679.4:n.527-5C>T
ENST00000204679.8:c.527-5C>T	ENSP00000204679.4:n.527-5C>T
ENST00000527076.1:n.1669C>T
ENST00000527168.5:n.689C>T
ENST00000529957.5:n.626-5C>T
NM_032520.4:c.527-5C>T	NP_115909.1:n.527-5C>T
XM_017023782.1:c.575-5C>T	XP_016879271.1:n.575-5C>T
XM_017023783.1:c.167-5C>T	XP_016879272.1:n.167-5C>T
NM_032520.5:c.527-5C>T MANE Select	NP_115909.1:n.527-5C>T