Canonical Allele Identifier: CA2201614340

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034894410
• gnomAD v4: 16-1361994-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361994C>T , CM000678.2:g.1361994C>T	GRCh38
NC_000016.9:g.1411995C>T , CM000678.1:g.1411995C>T	GRCh37
NC_000016.8:g.1351996C>T	NCBI36
NG_016985.1:g.15096C>T
NG_033129.1:g.57711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+39C>T
ENST00000529110.2:c.401+39C>T	ENSP00000435349.2:n.401+39C>T
ENST00000529957.6:n.375+39C>T
ENST00000683366.1:c.*49+39C>T	ENSP00000507283.1:n.*49+39C>T
ENST00000683887.1:c.365+39C>T	ENSP00000506886.1:n.365+39C>T
ENST00000684100.1:n.311+39C>T
ENST00000684126.1:n.375+39C>T
ENST00000684688.1:n.942+39C>T
ENST00000204679.9:c.317+39C>T MANE Select	ENSP00000204679.4:n.317+39C>T
ENST00000204679.8:c.317+39C>T	ENSP00000204679.4:n.317+39C>T
ENST00000526820.5:c.*219+39C>T	ENSP00000434413.1:n.*219+39C>T
ENST00000527076.1:n.1333+39C>T
ENST00000527168.5:n.353+39C>T
ENST00000529110.1:c.384+39C>T
ENST00000529957.5:n.416+39C>T
NM_032520.4:c.317+39C>T	NP_115909.1:n.317+39C>T
XM_017023782.1:c.365+39C>T	XP_016879271.1:n.365+39C>T
XM_017023783.1:c.-44+39C>T	XP_016879272.1:n.-44+39C>T
NM_032520.5:c.317+39C>T MANE Select	NP_115909.1:n.317+39C>T