Canonical Allele Identifier: CA2630958669
Gene: GNPTG HGNC NCBI

Linked Data

gnomAD v4: 16-1361841-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361841C>A , CM000678.2:g.1361841C>A GRCh38
NC_000016.9:g.1411842C>A , CM000678.1:g.1411842C>A GRCh37
NC_000016.8:g.1351843C>A NCBI36
NG_016985.1:g.14943C>A
NG_033129.1:g.57864G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.333-31C>A
ENST00000529110.2:c.318-31C>A ENSP00000435349.2:n.318-31C>A
ENST00000529957.6:n.292-31C>A
ENST00000683366.1:c.179-31C>A ENSP00000507283.1:n.179-31C>A
ENST00000683887.1:c.282-31C>A ENSP00000506886.1:n.282-31C>A
ENST00000684100.1:n.197C>A
ENST00000684126.1:n.292-31C>A
ENST00000684688.1:n.859-31C>A
ENST00000204679.9:c.234-31C>A MANE Select ENSP00000204679.4:n.234-31C>A
ENST00000204679.8:c.234-31C>A ENSP00000204679.4:n.234-31C>A
ENST00000526820.5:c.*136-31C>A ENSP00000434413.1:n.*136-31C>A
ENST00000527076.1:n.1219C>A
ENST00000527168.5:n.270-31C>A
ENST00000529110.1:c.301-31C>A
ENST00000529957.5:n.333-31C>A
NM_032520.4:c.234-31C>A NP_115909.1:n.234-31C>A
XM_017023782.1:c.282-31C>A XP_016879271.1:n.282-31C>A
XM_017023783.1:c.-127-31C>A XP_016879272.1:n.-127-31C>A
NM_032520.5:c.234-31C>A MANE Select NP_115909.1:n.234-31C>A