Canonical Allele Identifier: CA2575866888
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362202C>T , CM000678.2:g.1362202C>T GRCh38
NC_000016.9:g.1412203C>T , CM000678.1:g.1412203C>T GRCh37
NC_000016.8:g.1352204C>T NCBI36
NG_016985.1:g.15304C>T
NG_033129.1:g.57503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.511-4C>T
ENST00000529110.2:c.496-4C>T ENSP00000435349.2:n.496-4C>T
ENST00000529957.6:n.470-4C>T
ENST00000683366.1:c.*144-4C>T ENSP00000507283.1:n.*144-4C>T
ENST00000683887.1:c.460-4C>T ENSP00000506886.1:n.460-4C>T
ENST00000684100.1:n.406-4C>T
ENST00000684126.1:n.470-4C>T
ENST00000684688.1:n.1037-4C>T
ENST00000204679.9:c.412-4C>T MANE Select ENSP00000204679.4:n.412-4C>T
ENST00000204679.8:c.412-4C>T ENSP00000204679.4:n.412-4C>T
ENST00000527076.1:n.1428-4C>T
ENST00000527168.5:n.448-4C>T
ENST00000529110.1:c.479-4C>T
ENST00000529957.5:n.511-4C>T
NM_032520.4:c.412-4C>T NP_115909.1:n.412-4C>T
XM_017023782.1:c.460-4C>T XP_016879271.1:n.460-4C>T
XM_017023783.1:c.52-4C>T XP_016879272.1:n.52-4C>T
NM_032520.5:c.412-4C>T MANE Select NP_115909.1:n.412-4C>T