Canonical Allele Identifier: CA2058985320
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830863G= , CM000674.2:g.101830863G= GRCh38
NC_000012.11:g.102224641G= , CM000674.1:g.102224641G= GRCh37
NC_000012.10:g.100748772G= NCBI36
NG_021243.1:g.5005C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-188C= MANE Select ENSP00000299314.7:n.-188C=
ENST00000299314.11:c.-188C= ENSP00000299314.7:n.-188C=
NM_024312.4:c.-188C= NP_077288.2:n.-188C=
NM_024312.5:c.-188C= MANE Select NP_077288.2:n.-188C=
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