Canonical Allele Identifier: CA394188383

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1945541
• ClinVar RCV Id: RCV002667235
• gnomAD v4: 16-1362614-C-T
• MyVariant Identifiers: chr16:g.1412615C>T (hg19) ; chr16:g.1362614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362614C>T , CM000678.2:g.1362614C>T	GRCh38
NC_000016.9:g.1412615C>T , CM000678.1:g.1412615C>T	GRCh37
NC_000016.8:g.1352616C>T	NCBI36
NG_016985.1:g.15716C>T
NG_033129.1:g.57091G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.712C>T
ENST00000529110.2:c.697C>T	ENSP00000435349.2:p.His233Tyr
ENST00000529957.6:n.671C>T
ENST00000683366.1:c.*345C>T	ENSP00000507283.1:n.*345C>T
ENST00000683887.1:c.661C>T	ENSP00000506886.1:p.His221Tyr
ENST00000684100.1:n.607C>T
ENST00000684126.1:n.747C>T
ENST00000684688.1:n.1238C>T
ENST00000204679.9:c.613C>T MANE Select	ENSP00000204679.4:p.His205Tyr
ENST00000204679.8:c.613C>T	ENSP00000204679.4:p.His205Tyr
ENST00000527076.1:n.1836C>T
ENST00000527168.5:n.780C>T
ENST00000529957.5:n.712C>T
NM_032520.4:c.613C>T	NP_115909.1:p.His205Tyr
XM_017023782.1:c.661C>T	XP_016879271.1:p.His221Tyr
XM_017023783.1:c.253C>T	XP_016879272.1:p.His85Tyr
NM_032520.5:c.613C>T MANE Select	NP_115909.1:p.His205Tyr