Canonical Allele Identifier: CA2058985357
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830901A= , CM000674.2:g.101830901A= GRCh38
NC_000012.11:g.102224679A= , CM000674.1:g.102224679A= GRCh37
NC_000012.10:g.100748810A= NCBI36
NG_021243.1:g.4967T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-226T= MANE Select ENSP00000299314.7:n.-226T=
ENST00000299314.11:c.-226T= ENSP00000299314.7:n.-226T=
NM_024312.5:c.-226T= MANE Select NP_077288.2:n.-226T=
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