Canonical Allele Identifier: CA2630958625

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361820-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361820G>C , CM000678.2:g.1361820G>C	GRCh38
NC_000016.9:g.1411821G>C , CM000678.1:g.1411821G>C	GRCh37
NC_000016.8:g.1351822G>C	NCBI36
NG_016985.1:g.14922G>C
NG_033129.1:g.57885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.332+23G>C
ENST00000529110.2:c.317+23G>C	ENSP00000435349.2:n.317+23G>C
ENST00000529957.6:n.291+23G>C
ENST00000683366.1:c.179-52G>C	ENSP00000507283.1:n.179-52G>C
ENST00000683887.1:c.281+23G>C	ENSP00000506886.1:n.281+23G>C
ENST00000684100.1:n.176G>C
ENST00000684126.1:n.291+23G>C
ENST00000684688.1:n.858+23G>C
ENST00000204679.9:c.233+23G>C MANE Select	ENSP00000204679.4:n.233+23G>C
ENST00000204679.8:c.233+23G>C	ENSP00000204679.4:n.233+23G>C
ENST00000526820.5:c.*135+23G>C	ENSP00000434413.1:n.*135+23G>C
ENST00000527076.1:n.1198G>C
ENST00000527168.5:n.270-52G>C
ENST00000529110.1:c.300+23G>C
ENST00000529957.5:n.332+23G>C
NM_032520.4:c.233+23G>C	NP_115909.1:n.233+23G>C
XM_017023782.1:c.281+23G>C	XP_016879271.1:n.281+23G>C
XM_017023783.1:c.-128+23G>C	XP_016879272.1:n.-128+23G>C
NM_032520.5:c.233+23G>C MANE Select	NP_115909.1:n.233+23G>C