Canonical Allele Identifier: CA386487063
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830651G>T , CM000674.2:g.101830651G>T GRCh38
NC_000012.11:g.102224429G>T , CM000674.1:g.102224429G>T GRCh37
NC_000012.10:g.100748560G>T NCBI36
NG_021243.1:g.5217C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.25C>A MANE Select ENSP00000299314.7:p.Gln9Lys
ENST00000647144.1:n.13C>A
ENST00000299314.11:c.25C>A ENSP00000299314.7:p.Gln9Lys
ENST00000392919.4:c.25C>A ENSP00000376651.4:p.Gln9Lys
ENST00000549165.1:c.25C>A ENSP00000450413.1:p.Gln9Lys
ENST00000549940.5:c.25C>A ENSP00000449150.1:p.Gln9Lys
NM_024312.4:c.25C>A NP_077288.2:p.Gln9Lys
XM_006719593.2:c.25C>A XP_006719656.1:p.Gln9Lys
XM_006719593.3:c.25C>A XP_006719656.1:p.Gln9Lys
XM_017019961.1:c.-125C>A XP_016875450.1:n.-125C>A
XM_017019962.2:c.-1326C>A XP_016875451.1:n.-1326C>A
NM_024312.5:c.25C>A MANE Select NP_077288.2:p.Gln9Lys