Canonical Allele Identifier: CA7807507

Gene: GNPTG

Linked Data

• dbSNP Id: rs746507546
• ExAC: 16:1411716 C / T
• gnomAD v2: 16-1411716-C-T
• gnomAD v4: 16-1361715-C-T
• MyVariant Identifiers: chr16:g.1411716C>T (hg19) ; chr16:g.1361715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361715C>T , CM000678.2:g.1361715C>T	GRCh38
NC_000016.9:g.1411716C>T , CM000678.1:g.1411716C>T	GRCh37
NC_000016.8:g.1351717C>T	NCBI36
NG_016985.1:g.14817C>T
NG_033129.1:g.57990G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-28C>T
ENST00000529110.2:c.263-28C>T	ENSP00000435349.2:n.263-28C>T
ENST00000529957.6:n.237-28C>T
ENST00000683366.1:c.179-157C>T	ENSP00000507283.1:n.179-157C>T
ENST00000683887.1:c.199C>T	ENSP00000506886.1:p.Leu67=
ENST00000684100.1:n.71C>T
ENST00000684126.1:n.237-28C>T
ENST00000684688.1:n.776C>T
ENST00000204679.9:c.179-28C>T MANE Select	ENSP00000204679.4:n.179-28C>T
ENST00000204679.8:c.179-28C>T	ENSP00000204679.4:n.179-28C>T
ENST00000526820.5:c.*81-28C>T	ENSP00000434413.1:n.*81-28C>T
ENST00000527076.1:n.1093C>T
ENST00000527168.5:n.270-157C>T
ENST00000529110.1:c.246-28C>T
ENST00000529957.5:n.278-28C>T
NM_032520.4:c.179-28C>T	NP_115909.1:n.179-28C>T
XM_017023782.1:c.199C>T	XP_016879271.1:p.Leu67=
XM_017023783.1:c.-182-28C>T	XP_016879272.1:n.-182-28C>T
NM_032520.5:c.179-28C>T MANE Select	NP_115909.1:n.179-28C>T