Canonical Allele Identifier: CA2058985373
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871344751
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830910C>T , CM000674.2:g.101830910C>T GRCh38
NC_000012.11:g.102224688C>T , CM000674.1:g.102224688C>T GRCh37
NC_000012.10:g.100748819C>T NCBI36
NG_021243.1:g.4958G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-235G>A MANE Select ENSP00000299314.7:n.-235G>A
ENST00000299314.11:c.-235G>A ENSP00000299314.7:n.-235G>A
NM_024312.5:c.-235G>A MANE Select NP_077288.2:n.-235G>A
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