Canonical Allele Identifier: CA394188711
Gene: GNPTG HGNC NCBI

Linked Data

gnomAD v4: 16-1362848-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362848G>T , CM000678.2:g.1362848G>T GRCh38
NC_000016.9:g.1412849G>T , CM000678.1:g.1412849G>T GRCh37
NC_000016.8:g.1352850G>T NCBI36
NG_016985.1:g.15950G>T
NG_033129.1:g.56857C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.864G>T
ENST00000529110.2:c.849G>T ENSP00000435349.2:p.Glu283Asp
ENST00000529957.6:n.823G>T
ENST00000683366.1:c.*497G>T ENSP00000507283.1:n.*497G>T
ENST00000683887.1:c.813G>T ENSP00000506886.1:p.Glu271Asp
ENST00000684100.1:n.759G>T
ENST00000684126.1:n.899G>T
ENST00000684688.1:n.1390G>T
ENST00000204679.9:c.765G>T MANE Select ENSP00000204679.4:p.Glu255Asp
ENST00000204679.8:c.765G>T ENSP00000204679.4:p.Glu255Asp
ENST00000527076.1:n.1988G>T
ENST00000527168.5:n.932G>T
ENST00000529957.5:n.864G>T
NM_032520.4:c.765G>T NP_115909.1:p.Glu255Asp
XM_017023782.1:c.813G>T XP_016879271.1:p.Glu271Asp
XM_017023783.1:c.405G>T XP_016879272.1:p.Glu135Asp
NM_032520.5:c.765G>T MANE Select NP_115909.1:p.Glu255Asp