Canonical Allele Identifier: CA2575866925

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362582-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362582G>C , CM000678.2:g.1362582G>C	GRCh38
NC_000016.9:g.1412583G>C , CM000678.1:g.1412583G>C	GRCh37
NC_000016.8:g.1352584G>C	NCBI36
NG_016985.1:g.15684G>C
NG_033129.1:g.57123C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-29G>C
ENST00000529110.2:c.694-29G>C	ENSP00000435349.2:n.694-29G>C
ENST00000529957.6:n.668-29G>C
ENST00000683366.1:c.*342-29G>C	ENSP00000507283.1:n.*342-29G>C
ENST00000683887.1:c.658-29G>C	ENSP00000506886.1:n.658-29G>C
ENST00000684100.1:n.604-29G>C
ENST00000684126.1:n.715G>C
ENST00000684688.1:n.1235-29G>C
ENST00000204679.9:c.610-29G>C MANE Select	ENSP00000204679.4:n.610-29G>C
ENST00000204679.8:c.610-29G>C	ENSP00000204679.4:n.610-29G>C
ENST00000527076.1:n.1804G>C
ENST00000527168.5:n.777-29G>C
ENST00000529957.5:n.709-29G>C
NM_032520.4:c.610-29G>C	NP_115909.1:n.610-29G>C
XM_017023782.1:c.658-29G>C	XP_016879271.1:n.658-29G>C
XM_017023783.1:c.250-29G>C	XP_016879272.1:n.250-29G>C
NM_032520.5:c.610-29G>C MANE Select	NP_115909.1:n.610-29G>C