Canonical Allele Identifier: CA2058985237
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871334093
gnomAD v4: 12-101830755-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830755A>G , CM000674.2:g.101830755A>G GRCh38
NC_000012.11:g.102224533A>G , CM000674.1:g.102224533A>G GRCh37
NC_000012.10:g.100748664A>G NCBI36
NG_021243.1:g.5113T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-80T>C MANE Select ENSP00000299314.7:n.-80T>C
ENST00000299314.11:c.-80T>C ENSP00000299314.7:n.-80T>C
ENST00000392919.4:c.-80T>C ENSP00000376651.4:n.-80T>C
ENST00000549940.5:c.-80T>C ENSP00000449150.1:n.-80T>C
NM_024312.4:c.-80T>C NP_077288.2:n.-80T>C
XM_006719593.2:c.-80T>C XP_006719656.1:n.-80T>C
XM_006719593.3:c.-80T>C XP_006719656.1:n.-80T>C
XM_017019961.1:c.-229T>C XP_016875450.1:n.-229T>C
XM_017019962.2:c.-1430T>C XP_016875451.1:n.-1430T>C
NM_024312.5:c.-80T>C MANE Select NP_077288.2:n.-80T>C
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