Canonical Allele Identifier: CA620700143

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2816752
• ClinVar RCV Id: RCV003708953
• dbSNP Id: rs1293208348
• gnomAD v2: 16-1411976-G-C
• gnomAD v4: 16-1361975-G-C
• MyVariant Identifiers: chr16:g.1411976G>C (hg19) ; chr16:g.1361975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361975G>C , CM000678.2:g.1361975G>C	GRCh38
NC_000016.9:g.1411976G>C , CM000678.1:g.1411976G>C	GRCh37
NC_000016.8:g.1351977G>C	NCBI36
NG_016985.1:g.15077G>C
NG_033129.1:g.57730C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+20G>C
ENST00000529110.2:c.401+20G>C	ENSP00000435349.2:n.401+20G>C
ENST00000529957.6:n.375+20G>C
ENST00000683366.1:c.*49+20G>C	ENSP00000507283.1:n.*49+20G>C
ENST00000683887.1:c.365+20G>C	ENSP00000506886.1:n.365+20G>C
ENST00000684100.1:n.311+20G>C
ENST00000684126.1:n.375+20G>C
ENST00000684688.1:n.942+20G>C
ENST00000204679.9:c.317+20G>C MANE Select	ENSP00000204679.4:n.317+20G>C
ENST00000204679.8:c.317+20G>C	ENSP00000204679.4:n.317+20G>C
ENST00000526820.5:c.*219+20G>C	ENSP00000434413.1:n.*219+20G>C
ENST00000527076.1:n.1333+20G>C
ENST00000527168.5:n.353+20G>C
ENST00000529110.1:c.384+20G>C
ENST00000529957.5:n.416+20G>C
NM_032520.4:c.317+20G>C	NP_115909.1:n.317+20G>C
XM_017023782.1:c.365+20G>C	XP_016879271.1:n.365+20G>C
XM_017023783.1:c.-44+20G>C	XP_016879272.1:n.-44+20G>C
NM_032520.5:c.317+20G>C MANE Select	NP_115909.1:n.317+20G>C