Canonical Allele Identifier: CA620700170

Gene: GNPTG

Linked Data

• dbSNP Id: rs1377640223
• gnomAD v2: 16-1412943-T-C
• gnomAD v4: 16-1362942-T-C
• MyVariant Identifiers: chr16:g.1412943T>C (hg19) ; chr16:g.1362942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362942T>C , CM000678.2:g.1362942T>C	GRCh38
NC_000016.9:g.1412943T>C , CM000678.1:g.1412943T>C	GRCh37
NC_000016.8:g.1352944T>C	NCBI36
NG_016985.1:g.16044T>C
NG_033129.1:g.56763A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+36T>C
ENST00000529110.2:c.907+36T>C	ENSP00000435349.2:n.907+36T>C
ENST00000529957.6:n.881+36T>C
ENST00000683366.1:c.*555+36T>C	ENSP00000507283.1:n.*555+36T>C
ENST00000683887.1:c.871+36T>C	ENSP00000506886.1:n.871+36T>C
ENST00000684100.1:n.817+36T>C
ENST00000684126.1:n.957+36T>C
ENST00000684688.1:n.1448+36T>C
ENST00000204679.9:c.823+36T>C MANE Select	ENSP00000204679.4:n.823+36T>C
ENST00000204679.8:c.823+36T>C	ENSP00000204679.4:n.823+36T>C
ENST00000527076.1:n.2046+36T>C
ENST00000527168.5:n.990+36T>C
NM_032520.4:c.823+36T>C	NP_115909.1:n.823+36T>C
XM_017023782.1:c.871+36T>C	XP_016879271.1:n.871+36T>C
XM_017023783.1:c.463+36T>C	XP_016879272.1:n.463+36T>C
NM_032520.5:c.823+36T>C MANE Select	NP_115909.1:n.823+36T>C