Canonical Allele Identifier: CA7807857

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1042407
• ClinVar RCV Id: RCV001346359 ; RCV001836342 ; RCV002547058
• dbSNP Id: rs112925416
• ExAC: 16:1412633 A / T
• gnomAD v2: 16-1412633-A-T
• gnomAD v3: 16-1362632-A-T
• gnomAD v4: 16-1362632-A-T
• MyVariant Identifiers: chr16:g.1412633A>T (hg19) ; chr16:g.1362632A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362632A>T , CM000678.2:g.1362632A>T	GRCh38
NC_000016.9:g.1412633A>T , CM000678.1:g.1412633A>T	GRCh37
NC_000016.8:g.1352634A>T	NCBI36
NG_016985.1:g.15734A>T
NG_033129.1:g.57073T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.730A>T
ENST00000529110.2:c.715A>T	ENSP00000435349.2:p.Thr239Ser
ENST00000529957.6:n.689A>T
ENST00000683366.1:c.*363A>T	ENSP00000507283.1:n.*363A>T
ENST00000683887.1:c.679A>T	ENSP00000506886.1:p.Thr227Ser
ENST00000684100.1:n.625A>T
ENST00000684126.1:n.765A>T
ENST00000684688.1:n.1256A>T
ENST00000204679.9:c.631A>T MANE Select	ENSP00000204679.4:p.Thr211Ser
ENST00000204679.8:c.631A>T	ENSP00000204679.4:p.Thr211Ser
ENST00000527076.1:n.1854A>T
ENST00000527168.5:n.798A>T
ENST00000529957.5:n.730A>T
NM_032520.4:c.631A>T	NP_115909.1:p.Thr211Ser
XM_017023782.1:c.679A>T	XP_016879271.1:p.Thr227Ser
XM_017023783.1:c.271A>T	XP_016879272.1:p.Thr91Ser
NM_032520.5:c.631A>T MANE Select	NP_115909.1:p.Thr211Ser