Canonical Allele Identifier: CA2201614867
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362201C= , CM000678.2:g.1362201C= GRCh38
NC_000016.9:g.1412202C= , CM000678.1:g.1412202C= GRCh37
NC_000016.8:g.1352203C= NCBI36
NG_016985.1:g.15303C=
NG_033129.1:g.57504G=

Transcript Alleles

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