Canonical Allele Identifier: CA656446413
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361851T>C , CM000678.2:g.1361851T>C GRCh38
NC_000016.9:g.1411852T>C , CM000678.1:g.1411852T>C GRCh37
NC_000016.8:g.1351853T>C NCBI36
NG_016985.1:g.14953T>C
NG_033129.1:g.57854A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.333-21T>C
ENST00000529110.2:c.318-21T>C ENSP00000435349.2:n.318-21T>C
ENST00000529957.6:n.292-21T>C
ENST00000683366.1:c.179-21T>C ENSP00000507283.1:n.179-21T>C
ENST00000683887.1:c.282-21T>C ENSP00000506886.1:n.282-21T>C
ENST00000684100.1:n.207T>C
ENST00000684126.1:n.292-21T>C
ENST00000684688.1:n.859-21T>C
ENST00000204679.9:c.234-21T>C MANE Select ENSP00000204679.4:n.234-21T>C
ENST00000204679.8:c.234-21T>C ENSP00000204679.4:n.234-21T>C
ENST00000526820.5:c.*136-21T>C ENSP00000434413.1:n.*136-21T>C
ENST00000527076.1:n.1229T>C
ENST00000527168.5:n.270-21T>C
ENST00000529110.1:c.301-21T>C
ENST00000529957.5:n.333-21T>C
NM_032520.4:c.234-21T>C NP_115909.1:n.234-21T>C
XM_017023782.1:c.282-21T>C XP_016879271.1:n.282-21T>C
XM_017023783.1:c.-127-21T>C XP_016879272.1:n.-127-21T>C
NM_032520.5:c.234-21T>C MANE Select NP_115909.1:n.234-21T>C