Canonical Allele Identifier: CA2201615065

Gene: GNPTG

Linked Data

• dbSNP Id: rs758722133
• gnomAD v4: 16-1362350-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362350T>C , CM000678.2:g.1362350T>C	GRCh38
NC_000016.9:g.1412351T>C , CM000678.1:g.1412351T>C	GRCh37
NC_000016.8:g.1352352T>C	NCBI36
NG_016985.1:g.15452T>C
NG_033129.1:g.57355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+30T>C
ENST00000529110.2:c.610+30T>C	ENSP00000435349.2:n.610+30T>C
ENST00000529957.6:n.584+30T>C
ENST00000683366.1:c.*258+30T>C	ENSP00000507283.1:n.*258+30T>C
ENST00000683887.1:c.574+30T>C	ENSP00000506886.1:n.574+30T>C
ENST00000684100.1:n.520+30T>C
ENST00000684126.1:n.584+30T>C
ENST00000684688.1:n.1151+30T>C
ENST00000204679.9:c.526+30T>C MANE Select	ENSP00000204679.4:n.526+30T>C
ENST00000204679.8:c.526+30T>C	ENSP00000204679.4:n.526+30T>C
ENST00000527076.1:n.1572T>C
ENST00000527168.5:n.592T>C
ENST00000529957.5:n.625+30T>C
NM_032520.4:c.526+30T>C	NP_115909.1:n.526+30T>C
XM_017023782.1:c.574+30T>C	XP_016879271.1:n.574+30T>C
XM_017023783.1:c.166+30T>C	XP_016879272.1:n.166+30T>C
NM_032520.5:c.526+30T>C MANE Select	NP_115909.1:n.526+30T>C