Canonical Allele Identifier: CA2058985246
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1594270189
gnomAD v4: 12-101830767-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830767C>G , CM000674.2:g.101830767C>G GRCh38
NC_000012.11:g.102224545C>G , CM000674.1:g.102224545C>G GRCh37
NC_000012.10:g.100748676C>G NCBI36
NG_021243.1:g.5101G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-92G>C MANE Select ENSP00000299314.7:n.-92G>C
ENST00000299314.11:c.-92G>C ENSP00000299314.7:n.-92G>C
ENST00000392919.4:c.-92G>C ENSP00000376651.4:n.-92G>C
ENST00000549940.5:c.-92G>C ENSP00000449150.1:n.-92G>C
NM_024312.4:c.-92G>C NP_077288.2:n.-92G>C
XM_006719593.2:c.-92G>C XP_006719656.1:n.-92G>C
XM_006719593.3:c.-92G>C XP_006719656.1:n.-92G>C
XM_017019961.1:c.-241G>C XP_016875450.1:n.-241G>C
XM_017019962.2:c.-1442G>C XP_016875451.1:n.-1442G>C
NM_024312.5:c.-92G>C MANE Select NP_077288.2:n.-92G>C
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