Canonical Allele Identifier: CA718228630

Gene: GNPTG

Linked Data

• dbSNP Id: rs760119368
• gnomAD v4: 16-1362359-C-A
• MyVariant Identifiers: chr16:g.1412360C>A (hg19) ; chr16:g.1362359C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362359C>A , CM000678.2:g.1362359C>A	GRCh38
NC_000016.9:g.1412360C>A , CM000678.1:g.1412360C>A	GRCh37
NC_000016.8:g.1352361C>A	NCBI36
NG_016985.1:g.15461C>A
NG_033129.1:g.57346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+39C>A
ENST00000529110.2:c.610+39C>A	ENSP00000435349.2:n.610+39C>A
ENST00000529957.6:n.584+39C>A
ENST00000683366.1:c.*258+39C>A	ENSP00000507283.1:n.*258+39C>A
ENST00000683887.1:c.574+39C>A	ENSP00000506886.1:n.574+39C>A
ENST00000684100.1:n.520+39C>A
ENST00000684126.1:n.584+39C>A
ENST00000684688.1:n.1151+39C>A
ENST00000204679.9:c.526+39C>A MANE Select	ENSP00000204679.4:n.526+39C>A
ENST00000204679.8:c.526+39C>A	ENSP00000204679.4:n.526+39C>A
ENST00000527076.1:n.1581C>A
ENST00000527168.5:n.601C>A
ENST00000529957.5:n.625+39C>A
NM_032520.4:c.526+39C>A	NP_115909.1:n.526+39C>A
XM_017023782.1:c.574+39C>A	XP_016879271.1:n.574+39C>A
XM_017023783.1:c.166+39C>A	XP_016879272.1:n.166+39C>A
NM_032520.5:c.526+39C>A MANE Select	NP_115909.1:n.526+39C>A