Canonical Allele Identifier: CA2058985344
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830891G= , CM000674.2:g.101830891G= GRCh38
NC_000012.11:g.102224669G= , CM000674.1:g.102224669G= GRCh37
NC_000012.10:g.100748800G= NCBI36
NG_021243.1:g.4977C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-216C= MANE Select ENSP00000299314.7:n.-216C=
ENST00000299314.11:c.-216C= ENSP00000299314.7:n.-216C=
NM_024312.5:c.-216C= MANE Select NP_077288.2:n.-216C=
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