Canonical Allele Identifier: CA7807524

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1106714
• ClinVar RCV Id: RCV001431565
• dbSNP Id: rs777517766
• ExAC: 16:1411769 G / T
• gnomAD v2: 16-1411769-G-T
• gnomAD v4: 16-1361768-G-T
• MyVariant Identifiers: chr16:g.1411769G>T (hg19) ; chr16:g.1361768G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361768G>T , CM000678.2:g.1361768G>T	GRCh38
NC_000016.9:g.1411769G>T , CM000678.1:g.1411769G>T	GRCh37
NC_000016.8:g.1351770G>T	NCBI36
NG_016985.1:g.14870G>T
NG_033129.1:g.57937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.303G>T
ENST00000529110.2:c.288G>T	ENSP00000435349.2:p.Ser96=
ENST00000529957.6:n.262G>T
ENST00000683366.1:c.179-104G>T	ENSP00000507283.1:n.179-104G>T
ENST00000683887.1:c.252G>T	ENSP00000506886.1:p.Ser84=
ENST00000684100.1:n.124G>T
ENST00000684126.1:n.262G>T
ENST00000684688.1:n.829G>T
ENST00000204679.9:c.204G>T MANE Select	ENSP00000204679.4:p.Ser68=
ENST00000204679.8:c.204G>T	ENSP00000204679.4:p.Ser68=
ENST00000526820.5:c.*106G>T	ENSP00000434413.1:n.*106G>T
ENST00000527076.1:n.1146G>T
ENST00000527168.5:n.270-104G>T
ENST00000529110.1:c.271G>T
ENST00000529957.5:n.303G>T
NM_032520.4:c.204G>T	NP_115909.1:p.Ser68=
XM_017023782.1:c.252G>T	XP_016879271.1:p.Ser84=
XM_017023783.1:c.-157G>T	XP_016879272.1:n.-157G>T
NM_032520.5:c.204G>T MANE Select	NP_115909.1:p.Ser68=