Canonical Allele Identifier: CA394187185

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2059325
• ClinVar RCV Id: RCV002933672
• MyVariant Identifiers: chr16:g.1412046C>T (hg19) ; chr16:g.1362045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362045C>T , CM000678.2:g.1362045C>T	GRCh38
NC_000016.9:g.1412046C>T , CM000678.1:g.1412046C>T	GRCh37
NC_000016.8:g.1352047C>T	NCBI36
NG_016985.1:g.15147C>T
NG_033129.1:g.57660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.424C>T
ENST00000529110.2:c.409C>T	ENSP00000435349.2:p.His137Tyr
ENST00000529957.6:n.383C>T
ENST00000683366.1:c.*57C>T	ENSP00000507283.1:n.*57C>T
ENST00000683887.1:c.373C>T	ENSP00000506886.1:p.His125Tyr
ENST00000684100.1:n.319C>T
ENST00000684126.1:n.383C>T
ENST00000684688.1:n.950C>T
ENST00000204679.9:c.325C>T MANE Select	ENSP00000204679.4:p.His109Tyr
ENST00000204679.8:c.325C>T	ENSP00000204679.4:p.His109Tyr
ENST00000526820.5:c.*227C>T	ENSP00000434413.1:n.*227C>T
ENST00000527076.1:n.1341C>T
ENST00000527168.5:n.361C>T
ENST00000529110.1:c.392C>T
ENST00000529957.5:n.424C>T
NM_032520.4:c.325C>T	NP_115909.1:p.His109Tyr
XM_017023782.1:c.373C>T	XP_016879271.1:p.His125Tyr
XM_017023783.1:c.-36C>T	XP_016879272.1:n.-36C>T
NM_032520.5:c.325C>T MANE Select	NP_115909.1:p.His109Tyr