Canonical Allele Identifier: CA973711414

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034921592
• gnomAD v3: 16-1362554-G-C
• gnomAD v4: 16-1362554-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362554G>C , CM000678.2:g.1362554G>C	GRCh38
NC_000016.9:g.1412555G>C , CM000678.1:g.1412555G>C	GRCh37
NC_000016.8:g.1352556G>C	NCBI36
NG_016985.1:g.15656G>C
NG_033129.1:g.57151C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+20G>C
ENST00000529110.2:c.693+20G>C	ENSP00000435349.2:n.693+20G>C
ENST00000529957.6:n.667+20G>C
ENST00000683366.1:c.*341+20G>C	ENSP00000507283.1:n.*341+20G>C
ENST00000683887.1:c.657+20G>C	ENSP00000506886.1:n.657+20G>C
ENST00000684100.1:n.603+20G>C
ENST00000684126.1:n.687G>C
ENST00000684688.1:n.1234+20G>C
ENST00000204679.9:c.609+20G>C MANE Select	ENSP00000204679.4:n.609+20G>C
ENST00000204679.8:c.609+20G>C	ENSP00000204679.4:n.609+20G>C
ENST00000527076.1:n.1776G>C
ENST00000527168.5:n.776+20G>C
ENST00000529957.5:n.708+20G>C
NM_032520.4:c.609+20G>C	NP_115909.1:n.609+20G>C
XM_017023782.1:c.657+20G>C	XP_016879271.1:n.657+20G>C
XM_017023783.1:c.249+20G>C	XP_016879272.1:n.249+20G>C
NM_032520.5:c.609+20G>C MANE Select	NP_115909.1:n.609+20G>C