Canonical Allele Identifier: CA394188736
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362859T>A , CM000678.2:g.1362859T>A GRCh38
NC_000016.9:g.1412860T>A , CM000678.1:g.1412860T>A GRCh37
NC_000016.8:g.1352861T>A NCBI36
NG_016985.1:g.15961T>A
NG_033129.1:g.56846A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.875T>A
ENST00000529110.2:c.860T>A ENSP00000435349.2:p.Leu287Gln
ENST00000529957.6:n.834T>A
ENST00000683366.1:c.*508T>A ENSP00000507283.1:n.*508T>A
ENST00000683887.1:c.824T>A ENSP00000506886.1:p.Leu275Gln
ENST00000684100.1:n.770T>A
ENST00000684126.1:n.910T>A
ENST00000684688.1:n.1401T>A
ENST00000204679.9:c.776T>A MANE Select ENSP00000204679.4:p.Leu259Gln
ENST00000204679.8:c.776T>A ENSP00000204679.4:p.Leu259Gln
ENST00000527076.1:n.1999T>A
ENST00000527168.5:n.943T>A
ENST00000529957.5:n.875T>A
NM_032520.4:c.776T>A NP_115909.1:p.Leu259Gln
XM_017023782.1:c.824T>A XP_016879271.1:p.Leu275Gln
XM_017023783.1:c.416T>A XP_016879272.1:p.Leu139Gln
NM_032520.5:c.776T>A MANE Select NP_115909.1:p.Leu259Gln