Canonical Allele Identifier: CA493026644

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412617T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362616T>C , CM000678.2:g.1362616T>C	GRCh38
NC_000016.9:g.1412617T>C , CM000678.1:g.1412617T>C	GRCh37
NC_000016.8:g.1352618T>C	NCBI36
NG_016985.1:g.15718T>C
NG_033129.1:g.57089A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.714T>C
ENST00000529110.2:c.699T>C	ENSP00000435349.2:p.His233=
ENST00000529957.6:n.673T>C
ENST00000683366.1:c.*347T>C	ENSP00000507283.1:n.*347T>C
ENST00000683887.1:c.663T>C	ENSP00000506886.1:p.His221=
ENST00000684100.1:n.609T>C
ENST00000684126.1:n.749T>C
ENST00000684688.1:n.1240T>C
ENST00000204679.9:c.615T>C MANE Select	ENSP00000204679.4:p.His205=
ENST00000204679.8:c.615T>C	ENSP00000204679.4:p.His205=
ENST00000527076.1:n.1838T>C
ENST00000527168.5:n.782T>C
ENST00000529957.5:n.714T>C
NM_032520.4:c.615T>C	NP_115909.1:p.His205=
XM_017023782.1:c.663T>C	XP_016879271.1:p.His221=
XM_017023783.1:c.255T>C	XP_016879272.1:p.His85=
NM_032520.5:c.615T>C MANE Select	NP_115909.1:p.His205=