Canonical Allele Identifier: CA2630958152

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361699-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361699G>C , CM000678.2:g.1361699G>C	GRCh38
NC_000016.9:g.1411700G>C , CM000678.1:g.1411700G>C	GRCh37
NC_000016.8:g.1351701G>C	NCBI36
NG_016985.1:g.14801G>C
NG_033129.1:g.58006C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-44G>C
ENST00000529110.2:c.263-44G>C	ENSP00000435349.2:n.263-44G>C
ENST00000529957.6:n.237-44G>C
ENST00000683366.1:c.179-173G>C	ENSP00000507283.1:n.179-173G>C
ENST00000683887.1:c.183G>C	ENSP00000506886.1:p.Arg61Ser
ENST00000684100.1:n.55G>C
ENST00000684126.1:n.237-44G>C
ENST00000684688.1:n.760G>C
ENST00000204679.9:c.179-44G>C MANE Select	ENSP00000204679.4:n.179-44G>C
ENST00000204679.8:c.179-44G>C	ENSP00000204679.4:n.179-44G>C
ENST00000526820.5:c.*81-44G>C	ENSP00000434413.1:n.*81-44G>C
ENST00000527076.1:n.1077G>C
ENST00000527168.5:n.270-173G>C
ENST00000529110.1:c.246-44G>C
ENST00000529957.5:n.278-44G>C
NM_032520.4:c.179-44G>C	NP_115909.1:n.179-44G>C
XM_017023782.1:c.183G>C	XP_016879271.1:p.Arg61Ser
XM_017023783.1:c.-182-44G>C	XP_016879272.1:n.-182-44G>C
NM_032520.5:c.179-44G>C MANE Select	NP_115909.1:n.179-44G>C