Canonical Allele Identifier: CA607383743
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1239154077
gnomAD v2: 12-102224670-C-G
gnomAD v3: 12-101830892-C-G
gnomAD v4: 12-101830892-C-G
MyVariant Identifiers: chr12:g.102224670C>G (hg19) chr12:g.101830892C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830892C>G , CM000674.2:g.101830892C>G GRCh38
NC_000012.11:g.102224670C>G , CM000674.1:g.102224670C>G GRCh37
NC_000012.10:g.100748801C>G NCBI36
NG_021243.1:g.4976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-217G>C MANE Select ENSP00000299314.7:n.-217G>C
ENST00000299314.11:c.-217G>C ENSP00000299314.7:n.-217G>C
NM_024312.5:c.-217G>C MANE Select NP_077288.2:n.-217G>C
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