Canonical Allele Identifier: CA682766082
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs905834775
gnomAD v3: 12-101830877-A-T
gnomAD v4: 12-101830877-A-T
MyVariant Identifiers: chr12:g.102224655A>T (hg19) chr12:g.101830877A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830877A>T , CM000674.2:g.101830877A>T GRCh38
NC_000012.11:g.102224655A>T , CM000674.1:g.102224655A>T GRCh37
NC_000012.10:g.100748786A>T NCBI36
NG_021243.1:g.4991T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-202T>A MANE Select ENSP00000299314.7:n.-202T>A
ENST00000299314.11:c.-202T>A ENSP00000299314.7:n.-202T>A
NM_024312.5:c.-202T>A MANE Select NP_077288.2:n.-202T>A
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