Canonical Allele Identifier: CA2805552016

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362386T>C , CM000678.2:g.1362386T>C	GRCh38
NC_000016.9:g.1412387T>C , CM000678.1:g.1412387T>C	GRCh37
NC_000016.8:g.1352388T>C	NCBI36
NG_016985.1:g.15488T>C
NG_033129.1:g.57319A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-66T>C
ENST00000529110.2:c.611-66T>C	ENSP00000435349.2:n.611-66T>C
ENST00000529957.6:n.585-66T>C
ENST00000683366.1:c.*259-66T>C	ENSP00000507283.1:n.*259-66T>C
ENST00000683887.1:c.575-66T>C	ENSP00000506886.1:n.575-66T>C
ENST00000684100.1:n.521-66T>C
ENST00000684126.1:n.585-66T>C
ENST00000684688.1:n.1152-66T>C
ENST00000204679.9:c.527-66T>C MANE Select	ENSP00000204679.4:n.527-66T>C
ENST00000204679.8:c.527-66T>C	ENSP00000204679.4:n.527-66T>C
ENST00000527076.1:n.1608T>C
ENST00000527168.5:n.628T>C
ENST00000529957.5:n.626-66T>C
NM_032520.4:c.527-66T>C	NP_115909.1:n.527-66T>C
XM_017023782.1:c.575-66T>C	XP_016879271.1:n.575-66T>C
XM_017023783.1:c.167-66T>C	XP_016879272.1:n.167-66T>C
NM_032520.5:c.527-66T>C MANE Select	NP_115909.1:n.527-66T>C