Canonical Allele Identifier: CA7807913

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 3023154
• ClinVar RCV Id: RCV003882340
• dbSNP Id: rs368890072
• ExAC: 16:1412756 G / C
• gnomAD v2: 16-1412756-G-C
• gnomAD v3: 16-1362755-G-C
• gnomAD v4: 16-1362755-G-C
• MyVariant Identifiers: chr16:g.1412756G>C (hg19) ; chr16:g.1362755G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362755G>C , CM000678.2:g.1362755G>C	GRCh38
NC_000016.9:g.1412756G>C , CM000678.1:g.1412756G>C	GRCh37
NC_000016.8:g.1352757G>C	NCBI36
NG_016985.1:g.15857G>C
NG_033129.1:g.56950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+13G>C
ENST00000529110.2:c.825+13G>C	ENSP00000435349.2:n.825+13G>C
ENST00000529957.6:n.799+13G>C
ENST00000683366.1:c.*473+13G>C	ENSP00000507283.1:n.*473+13G>C
ENST00000683887.1:c.789+13G>C	ENSP00000506886.1:n.789+13G>C
ENST00000684100.1:n.735+13G>C
ENST00000684126.1:n.875+13G>C
ENST00000684688.1:n.1366+13G>C
ENST00000204679.9:c.741+13G>C MANE Select	ENSP00000204679.4:n.741+13G>C
ENST00000204679.8:c.741+13G>C	ENSP00000204679.4:n.741+13G>C
ENST00000527076.1:n.1964+13G>C
ENST00000527168.5:n.908+13G>C
ENST00000529957.5:n.840+13G>C
NM_032520.4:c.741+13G>C	NP_115909.1:n.741+13G>C
XM_017023782.1:c.789+13G>C	XP_016879271.1:n.789+13G>C
XM_017023783.1:c.381+13G>C	XP_016879272.1:n.381+13G>C
NM_032520.5:c.741+13G>C MANE Select	NP_115909.1:n.741+13G>C