Canonical Allele Identifier: CA620700213

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 3050424
• ClinVar RCV Id: RCV003954491
• dbSNP Id: rs1436743181
• gnomAD v2: 16-1412584-G-C
• gnomAD v4: 16-1362583-G-C
• MyVariant Identifiers: chr16:g.1412584G>C (hg19) ; chr16:g.1362583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362583G>C , CM000678.2:g.1362583G>C	GRCh38
NC_000016.9:g.1412584G>C , CM000678.1:g.1412584G>C	GRCh37
NC_000016.8:g.1352585G>C	NCBI36
NG_016985.1:g.15685G>C
NG_033129.1:g.57122C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-28G>C
ENST00000529110.2:c.694-28G>C	ENSP00000435349.2:n.694-28G>C
ENST00000529957.6:n.668-28G>C
ENST00000683366.1:c.*342-28G>C	ENSP00000507283.1:n.*342-28G>C
ENST00000683887.1:c.658-28G>C	ENSP00000506886.1:n.658-28G>C
ENST00000684100.1:n.604-28G>C
ENST00000684126.1:n.716G>C
ENST00000684688.1:n.1235-28G>C
ENST00000204679.9:c.610-28G>C MANE Select	ENSP00000204679.4:n.610-28G>C
ENST00000204679.8:c.610-28G>C	ENSP00000204679.4:n.610-28G>C
ENST00000527076.1:n.1805G>C
ENST00000527168.5:n.777-28G>C
ENST00000529957.5:n.709-28G>C
NM_032520.4:c.610-28G>C	NP_115909.1:n.610-28G>C
XM_017023782.1:c.658-28G>C	XP_016879271.1:n.658-28G>C
XM_017023783.1:c.250-28G>C	XP_016879272.1:n.250-28G>C
NM_032520.5:c.610-28G>C MANE Select	NP_115909.1:n.610-28G>C