Canonical Allele Identifier: CA394186470

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411752C>G (hg19) ; chr16:g.1361751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361751C>G , CM000678.2:g.1361751C>G	GRCh38
NC_000016.9:g.1411752C>G , CM000678.1:g.1411752C>G	GRCh37
NC_000016.8:g.1351753C>G	NCBI36
NG_016985.1:g.14853C>G
NG_033129.1:g.57954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.286C>G
ENST00000529110.2:c.271C>G	ENSP00000435349.2:p.His91Asp
ENST00000529957.6:n.245C>G
ENST00000683366.1:c.179-121C>G	ENSP00000507283.1:n.179-121C>G
ENST00000683887.1:c.235C>G	ENSP00000506886.1:p.His79Asp
ENST00000684100.1:n.107C>G
ENST00000684126.1:n.245C>G
ENST00000684688.1:n.812C>G
ENST00000204679.9:c.187C>G MANE Select	ENSP00000204679.4:p.His63Asp
ENST00000204679.8:c.187C>G	ENSP00000204679.4:p.His63Asp
ENST00000526820.5:c.*89C>G	ENSP00000434413.1:n.*89C>G
ENST00000527076.1:n.1129C>G
ENST00000527168.5:n.270-121C>G
ENST00000529110.1:c.254C>G
ENST00000529957.5:n.286C>G
NM_032520.4:c.187C>G	NP_115909.1:p.His63Asp
XM_017023782.1:c.235C>G	XP_016879271.1:p.His79Asp
XM_017023783.1:c.-174C>G	XP_016879272.1:n.-174C>G
NM_032520.5:c.187C>G MANE Select	NP_115909.1:p.His63Asp