Canonical Allele Identifier: CA951191012
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871343104
gnomAD v3: 12-101830894-G-C
gnomAD v4: 12-101830894-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830894G>C , CM000674.2:g.101830894G>C GRCh38
NC_000012.11:g.102224672G>C , CM000674.1:g.102224672G>C GRCh37
NC_000012.10:g.100748803G>C NCBI36
NG_021243.1:g.4974C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-219C>G MANE Select ENSP00000299314.7:n.-219C>G
ENST00000299314.11:c.-219C>G ENSP00000299314.7:n.-219C>G
NM_024312.5:c.-219C>G MANE Select NP_077288.2:n.-219C>G
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