Canonical Allele Identifier: CA394186963

Gene: GNPTG

Linked Data

• dbSNP Id: rs756056220
• gnomAD v4: 16-1361922-C-T
• MyVariant Identifiers: chr16:g.1411923C>T (hg19) ; chr16:g.1361922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361922C>T , CM000678.2:g.1361922C>T	GRCh38
NC_000016.9:g.1411923C>T , CM000678.1:g.1411923C>T	GRCh37
NC_000016.8:g.1351924C>T	NCBI36
NG_016985.1:g.15024C>T
NG_033129.1:g.57783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.383C>T
ENST00000529110.2:c.368C>T	ENSP00000435349.2:p.Thr123Ile
ENST00000529957.6:n.342C>T
ENST00000683366.1:c.*16C>T	ENSP00000507283.1:n.*16C>T
ENST00000683887.1:c.332C>T	ENSP00000506886.1:p.Thr111Ile
ENST00000684100.1:n.278C>T
ENST00000684126.1:n.342C>T
ENST00000684688.1:n.909C>T
ENST00000204679.9:c.284C>T MANE Select	ENSP00000204679.4:p.Thr95Ile
ENST00000204679.8:c.284C>T	ENSP00000204679.4:p.Thr95Ile
ENST00000526820.5:c.*186C>T	ENSP00000434413.1:n.*186C>T
ENST00000527076.1:n.1300C>T
ENST00000527168.5:n.320C>T
ENST00000529110.1:c.351C>T
ENST00000529957.5:n.383C>T
NM_032520.4:c.284C>T	NP_115909.1:p.Thr95Ile
XM_017023782.1:c.332C>T	XP_016879271.1:p.Thr111Ile
XM_017023783.1:c.-77C>T	XP_016879272.1:n.-77C>T
NM_032520.5:c.284C>T MANE Select	NP_115909.1:p.Thr95Ile