Canonical Allele Identifier: CA951190959
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871340241
gnomAD v3: 12-101830850-G-C
gnomAD v4: 12-101830850-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830850G>C , CM000674.2:g.101830850G>C GRCh38
NC_000012.11:g.102224628G>C , CM000674.1:g.102224628G>C GRCh37
NC_000012.10:g.100748759G>C NCBI36
NG_021243.1:g.5018C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-175C>G MANE Select ENSP00000299314.7:n.-175C>G
ENST00000299314.11:c.-175C>G ENSP00000299314.7:n.-175C>G
NM_024312.4:c.-175C>G NP_077288.2:n.-175C>G
XM_006719593.2:c.-175C>G XP_006719656.1:n.-175C>G
NM_024312.5:c.-175C>G MANE Select NP_077288.2:n.-175C>G
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