Canonical Allele Identifier: CA242320112
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs530306890
gnomAD v2: 12-102224692-G-A
gnomAD v3: 12-101830914-G-A
gnomAD v4: 12-101830914-G-A
MyVariant Identifiers: chr12:g.102224692G>A (hg19) chr12:g.101830914G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830914G>A , CM000674.2:g.101830914G>A GRCh38
NC_000012.11:g.102224692G>A , CM000674.1:g.102224692G>A GRCh37
NC_000012.10:g.100748823G>A NCBI36
NG_021243.1:g.4954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-239C>T MANE Select ENSP00000299314.7:n.-239C>T
ENST00000299314.11:c.-239C>T ENSP00000299314.7:n.-239C>T
NM_024312.5:c.-239C>T MANE Select NP_077288.2:n.-239C>T
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