Canonical Allele Identifier: CA2630958739

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2743621
• ClinVar RCV Id: RCV003560471
• gnomAD v4: 16-1361860-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361860C>T , CM000678.2:g.1361860C>T	GRCh38
NC_000016.9:g.1411861C>T , CM000678.1:g.1411861C>T	GRCh37
NC_000016.8:g.1351862C>T	NCBI36
NG_016985.1:g.14962C>T
NG_033129.1:g.57845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-12C>T
ENST00000529110.2:c.318-12C>T	ENSP00000435349.2:n.318-12C>T
ENST00000529957.6:n.292-12C>T
ENST00000683366.1:c.179-12C>T	ENSP00000507283.1:n.179-12C>T
ENST00000683887.1:c.282-12C>T	ENSP00000506886.1:n.282-12C>T
ENST00000684100.1:n.216C>T
ENST00000684126.1:n.292-12C>T
ENST00000684688.1:n.859-12C>T
ENST00000204679.9:c.234-12C>T MANE Select	ENSP00000204679.4:n.234-12C>T
ENST00000204679.8:c.234-12C>T	ENSP00000204679.4:n.234-12C>T
ENST00000526820.5:c.*136-12C>T	ENSP00000434413.1:n.*136-12C>T
ENST00000527076.1:n.1238C>T
ENST00000527168.5:n.270-12C>T
ENST00000529110.1:c.301-12C>T
ENST00000529957.5:n.333-12C>T
NM_032520.4:c.234-12C>T	NP_115909.1:n.234-12C>T
XM_017023782.1:c.282-12C>T	XP_016879271.1:n.282-12C>T
XM_017023783.1:c.-127-12C>T	XP_016879272.1:n.-127-12C>T
NM_032520.5:c.234-12C>T MANE Select	NP_115909.1:n.234-12C>T