Canonical Allele Identifier: CA276655950

Gene: GNPTG

Linked Data

• dbSNP Id: rs905578483
• gnomAD v3: 16-1361613-C-T
• gnomAD v4: 16-1361613-C-T
• MyVariant Identifiers: chr16:g.1411614C>T (hg19) ; chr16:g.1361613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361613C>T , CM000678.2:g.1361613C>T	GRCh38
NC_000016.9:g.1411614C>T , CM000678.1:g.1411614C>T	GRCh37
NC_000016.8:g.1351615C>T	NCBI36
NG_016985.1:g.14715C>T
NG_033129.1:g.58092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-130C>T
ENST00000529110.2:c.263-130C>T	ENSP00000435349.2:n.263-130C>T
ENST00000529957.6:n.237-130C>T
ENST00000683366.1:c.179-259C>T	ENSP00000507283.1:n.179-259C>T
ENST00000683887.1:c.179-82C>T	ENSP00000506886.1:n.179-82C>T
ENST00000684126.1:n.237-130C>T
ENST00000684688.1:n.674C>T
ENST00000204679.9:c.179-130C>T MANE Select	ENSP00000204679.4:n.179-130C>T
ENST00000204679.8:c.179-130C>T	ENSP00000204679.4:n.179-130C>T
ENST00000526820.5:c.*81-130C>T	ENSP00000434413.1:n.*81-130C>T
ENST00000527076.1:n.991C>T
ENST00000527168.5:n.270-259C>T
ENST00000529110.1:c.246-130C>T
ENST00000529957.5:n.278-130C>T
NM_032520.4:c.179-130C>T	NP_115909.1:n.179-130C>T
XM_017023782.1:c.179-82C>T	XP_016879271.1:n.179-82C>T
XM_017023783.1:c.-182-130C>T	XP_016879272.1:n.-182-130C>T
NM_032520.5:c.179-130C>T MANE Select	NP_115909.1:n.179-130C>T