Canonical Allele Identifier: CA2567268108
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830918C>G , CM000674.2:g.101830918C>G GRCh38
NC_000012.11:g.102224696C>G , CM000674.1:g.102224696C>G GRCh37
NC_000012.10:g.100748827C>G NCBI36
NG_021243.1:g.4950G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-243G>C MANE Select ENSP00000299314.7:n.-243G>C
ENST00000299314.11:c.-243G>C ENSP00000299314.7:n.-243G>C
NM_024312.5:c.-243G>C MANE Select NP_077288.2:n.-243G>C
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