Canonical Allele Identifier: CA7807537

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2738733
• ClinVar RCV Id: RCV003562724
• dbSNP Id: rs373810840
• ExAC: 16:1411817 C / A
• gnomAD v2: 16-1411817-C-A
• gnomAD v4: 16-1361816-C-A
• MyVariant Identifiers: chr16:g.1411817C>A (hg19) ; chr16:g.1361816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361816C>A , CM000678.2:g.1361816C>A	GRCh38
NC_000016.9:g.1411817C>A , CM000678.1:g.1411817C>A	GRCh37
NC_000016.8:g.1351818C>A	NCBI36
NG_016985.1:g.14918C>A
NG_033129.1:g.57889G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.332+19C>A
ENST00000529110.2:c.317+19C>A	ENSP00000435349.2:n.317+19C>A
ENST00000529957.6:n.291+19C>A
ENST00000683366.1:c.179-56C>A	ENSP00000507283.1:n.179-56C>A
ENST00000683887.1:c.281+19C>A	ENSP00000506886.1:n.281+19C>A
ENST00000684100.1:n.172C>A
ENST00000684126.1:n.291+19C>A
ENST00000684688.1:n.858+19C>A
ENST00000204679.9:c.233+19C>A MANE Select	ENSP00000204679.4:n.233+19C>A
ENST00000204679.8:c.233+19C>A	ENSP00000204679.4:n.233+19C>A
ENST00000526820.5:c.*135+19C>A	ENSP00000434413.1:n.*135+19C>A
ENST00000527076.1:n.1194C>A
ENST00000527168.5:n.270-56C>A
ENST00000529110.1:c.300+19C>A
ENST00000529957.5:n.332+19C>A
NM_032520.4:c.233+19C>A	NP_115909.1:n.233+19C>A
XM_017023782.1:c.281+19C>A	XP_016879271.1:n.281+19C>A
XM_017023783.1:c.-128+19C>A	XP_016879272.1:n.-128+19C>A
NM_032520.5:c.233+19C>A MANE Select	NP_115909.1:n.233+19C>A