Canonical Allele Identifier: CA2201613998

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1971804
• ClinVar RCV Id: RCV002741015
• dbSNP Id: rs776752687

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361853A>T , CM000678.2:g.1361853A>T	GRCh38
NC_000016.9:g.1411854A>T , CM000678.1:g.1411854A>T	GRCh37
NC_000016.8:g.1351855A>T	NCBI36
NG_016985.1:g.14955A>T
NG_033129.1:g.57852T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-19A>T
ENST00000529110.2:c.318-19A>T	ENSP00000435349.2:n.318-19A>T
ENST00000529957.6:n.292-19A>T
ENST00000683366.1:c.179-19A>T	ENSP00000507283.1:n.179-19A>T
ENST00000683887.1:c.282-19A>T	ENSP00000506886.1:n.282-19A>T
ENST00000684100.1:n.209A>T
ENST00000684126.1:n.292-19A>T
ENST00000684688.1:n.859-19A>T
ENST00000204679.9:c.234-19A>T MANE Select	ENSP00000204679.4:n.234-19A>T
ENST00000204679.8:c.234-19A>T	ENSP00000204679.4:n.234-19A>T
ENST00000526820.5:c.*136-19A>T	ENSP00000434413.1:n.*136-19A>T
ENST00000527076.1:n.1231A>T
ENST00000527168.5:n.270-19A>T
ENST00000529110.1:c.301-19A>T
ENST00000529957.5:n.333-19A>T
NM_032520.4:c.234-19A>T	NP_115909.1:n.234-19A>T
XM_017023782.1:c.282-19A>T	XP_016879271.1:n.282-19A>T
XM_017023783.1:c.-127-19A>T	XP_016879272.1:n.-127-19A>T
NM_032520.5:c.234-19A>T MANE Select	NP_115909.1:n.234-19A>T