Canonical Allele Identifier: CA276659079
Gene: GNPTG HGNC NCBI

Linked Data

dbSNP Id: rs893287710

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362786C>T , CM000678.2:g.1362786C>T GRCh38
NC_000016.9:g.1412787C>T , CM000678.1:g.1412787C>T GRCh37
NC_000016.8:g.1352788C>T NCBI36
NG_016985.1:g.15888C>T
NG_033129.1:g.56919G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.841-39C>T
ENST00000529110.2:c.826-39C>T ENSP00000435349.2:n.826-39C>T
ENST00000529957.6:n.800-39C>T
ENST00000683366.1:c.*474-39C>T ENSP00000507283.1:n.*474-39C>T
ENST00000683887.1:c.790-39C>T ENSP00000506886.1:n.790-39C>T
ENST00000684100.1:n.736-39C>T
ENST00000684126.1:n.876-39C>T
ENST00000684688.1:n.1367-39C>T
ENST00000204679.9:c.742-39C>T MANE Select ENSP00000204679.4:n.742-39C>T
ENST00000204679.8:c.742-39C>T ENSP00000204679.4:n.742-39C>T
ENST00000527076.1:n.1965-39C>T
ENST00000527168.5:n.909-39C>T
ENST00000529957.5:n.841-39C>T
NM_032520.4:c.742-39C>T NP_115909.1:n.742-39C>T
XM_017023782.1:c.790-39C>T XP_016879271.1:n.790-39C>T
XM_017023783.1:c.382-39C>T XP_016879272.1:n.382-39C>T
NM_032520.5:c.742-39C>T MANE Select NP_115909.1:n.742-39C>T