Canonical Allele Identifier: CA276656154

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2989359
• ClinVar RCV Id: RCV003849510
• dbSNP Id: rs973297006
• gnomAD v3: 16-1361724-A-T
• gnomAD v4: 16-1361724-A-T
• MyVariant Identifiers: chr16:g.1411725A>T (hg19) ; chr16:g.1361724A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361724A>T , CM000678.2:g.1361724A>T	GRCh38
NC_000016.9:g.1411725A>T , CM000678.1:g.1411725A>T	GRCh37
NC_000016.8:g.1351726A>T	NCBI36
NG_016985.1:g.14826A>T
NG_033129.1:g.57981T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-19A>T
ENST00000529110.2:c.263-19A>T	ENSP00000435349.2:n.263-19A>T
ENST00000529957.6:n.237-19A>T
ENST00000683366.1:c.179-148A>T	ENSP00000507283.1:n.179-148A>T
ENST00000683887.1:c.208A>T	ENSP00000506886.1:p.Ser70Cys
ENST00000684100.1:n.80A>T
ENST00000684126.1:n.237-19A>T
ENST00000684688.1:n.785A>T
ENST00000204679.9:c.179-19A>T MANE Select	ENSP00000204679.4:n.179-19A>T
ENST00000204679.8:c.179-19A>T	ENSP00000204679.4:n.179-19A>T
ENST00000526820.5:c.*81-19A>T	ENSP00000434413.1:n.*81-19A>T
ENST00000527076.1:n.1102A>T
ENST00000527168.5:n.270-148A>T
ENST00000529110.1:c.246-19A>T
ENST00000529957.5:n.278-19A>T
NM_032520.4:c.179-19A>T	NP_115909.1:n.179-19A>T
XM_017023782.1:c.208A>T	XP_016879271.1:p.Ser70Cys
XM_017023783.1:c.-182-19A>T	XP_016879272.1:n.-182-19A>T
NM_032520.5:c.179-19A>T MANE Select	NP_115909.1:n.179-19A>T