Canonical Allele Identifier: CA7807888

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362703T>C , CM000678.2:g.1362703T>C	GRCh38
NC_000016.9:g.1412704T>C , CM000678.1:g.1412704T>C	GRCh37
NC_000016.8:g.1352705T>C	NCBI36
NG_016985.1:g.15805T>C
NG_033129.1:g.57002A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.702T>C MANE Select	NP_115909.1:p.Pro234=
ENST00000204679.9:c.702T>C MANE Select	ENSP00000204679.4:p.Pro234=
NM_032520.4:c.702T>C	NP_115909.1:p.Pro234=
ENST00000204679.8:c.702T>C	ENSP00000204679.4:p.Pro234=
ENST00000527076.1:n.1925T>C
ENST00000527168.5:n.869T>C
ENST00000527168.6:n.801T>C
ENST00000529110.2:c.786T>C	ENSP00000435349.2:p.Pro262=
ENST00000529957.5:n.801T>C
ENST00000529957.6:n.760T>C
ENST00000683366.1:c.*434T>C	ENSP00000507283.1:n.*434T>C
ENST00000683887.1:c.750T>C	ENSP00000506886.1:p.Pro250=
ENST00000684100.1:n.696T>C
ENST00000684126.1:n.836T>C
ENST00000684688.1:n.1327T>C
XM_017023782.1:c.750T>C	XP_016879271.1:p.Pro250=
XM_017023783.1:c.342T>C	XP_016879272.1:p.Pro114=