Canonical Allele Identifier: CA2797216503
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830872A>C , CM000674.2:g.101830872A>C GRCh38
NC_000012.11:g.102224650A>C , CM000674.1:g.102224650A>C GRCh37
NC_000012.10:g.100748781A>C NCBI36
NG_021243.1:g.4996T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-197T>G MANE Select ENSP00000299314.7:n.-197T>G
ENST00000299314.11:c.-197T>G ENSP00000299314.7:n.-197T>G
NM_024312.5:c.-197T>G MANE Select NP_077288.2:n.-197T>G
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