Canonical Allele Identifier: CA951190983
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1048915361
gnomAD v3: 12-101830869-G-T
gnomAD v4: 12-101830869-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830869G>T , CM000674.2:g.101830869G>T GRCh38
NC_000012.11:g.102224647G>T , CM000674.1:g.102224647G>T GRCh37
NC_000012.10:g.100748778G>T NCBI36
NG_021243.1:g.4999C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-194C>A MANE Select ENSP00000299314.7:n.-194C>A
ENST00000299314.11:c.-194C>A ENSP00000299314.7:n.-194C>A
NM_024312.5:c.-194C>A MANE Select NP_077288.2:n.-194C>A
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