Canonical Allele Identifier: CA342410
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 21720
ClinVar RCV Id: RCV000020923
dbSNP Id: rs193302854

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362610G>T , CM000678.2:g.1362610G>T GRCh38
NC_000016.9:g.1412611G>T , CM000678.1:g.1412611G>T GRCh37
NC_000016.8:g.1352612G>T NCBI36
NG_016985.1:g.15712G>T
NG_033129.1:g.57095C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.709-1G>T
ENST00000529110.2:c.694-1G>T ENSP00000435349.2:n.694-1G>T
ENST00000529957.6:n.668-1G>T
ENST00000683366.1:c.*342-1G>T ENSP00000507283.1:n.*342-1G>T
ENST00000683887.1:c.658-1G>T ENSP00000506886.1:n.658-1G>T
ENST00000684100.1:n.604-1G>T
ENST00000684126.1:n.743G>T
ENST00000684688.1:n.1235-1G>T
ENST00000204679.9:c.610-1G>T MANE Select ENSP00000204679.4:n.610-1G>T
ENST00000204679.8:c.610-1G>T ENSP00000204679.4:n.610-1G>T
ENST00000527076.1:n.1832G>T
ENST00000527168.5:n.777-1G>T
ENST00000529957.5:n.709-1G>T
NM_032520.4:c.610-1G>T NP_115909.1:n.610-1G>T
XM_017023782.1:c.658-1G>T XP_016879271.1:n.658-1G>T
XM_017023783.1:c.250-1G>T XP_016879272.1:n.250-1G>T
NM_032520.5:c.610-1G>T MANE Select NP_115909.1:n.610-1G>T