Canonical Allele Identifier: CA2620451093
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1961124595
gnomAD v4: 12-101830904-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830904T>C , CM000674.2:g.101830904T>C GRCh38
NC_000012.11:g.102224682T>C , CM000674.1:g.102224682T>C GRCh37
NC_000012.10:g.100748813T>C NCBI36
NG_021243.1:g.4964A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-229A>G MANE Select ENSP00000299314.7:n.-229A>G
ENST00000299314.11:c.-229A>G ENSP00000299314.7:n.-229A>G
NM_024312.5:c.-229A>G MANE Select NP_077288.2:n.-229A>G
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