Canonical Allele Identifier: CA2630958620

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361818-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361818A>C , CM000678.2:g.1361818A>C	GRCh38
NC_000016.9:g.1411819A>C , CM000678.1:g.1411819A>C	GRCh37
NC_000016.8:g.1351820A>C	NCBI36
NG_016985.1:g.14920A>C
NG_033129.1:g.57887T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.332+21A>C
ENST00000529110.2:c.317+21A>C	ENSP00000435349.2:n.317+21A>C
ENST00000529957.6:n.291+21A>C
ENST00000683366.1:c.179-54A>C	ENSP00000507283.1:n.179-54A>C
ENST00000683887.1:c.281+21A>C	ENSP00000506886.1:n.281+21A>C
ENST00000684100.1:n.174A>C
ENST00000684126.1:n.291+21A>C
ENST00000684688.1:n.858+21A>C
ENST00000204679.9:c.233+21A>C MANE Select	ENSP00000204679.4:n.233+21A>C
ENST00000204679.8:c.233+21A>C	ENSP00000204679.4:n.233+21A>C
ENST00000526820.5:c.*135+21A>C	ENSP00000434413.1:n.*135+21A>C
ENST00000527076.1:n.1196A>C
ENST00000527168.5:n.270-54A>C
ENST00000529110.1:c.300+21A>C
ENST00000529957.5:n.332+21A>C
NM_032520.4:c.233+21A>C	NP_115909.1:n.233+21A>C
XM_017023782.1:c.281+21A>C	XP_016879271.1:n.281+21A>C
XM_017023783.1:c.-128+21A>C	XP_016879272.1:n.-128+21A>C
NM_032520.5:c.233+21A>C MANE Select	NP_115909.1:n.233+21A>C