Canonical Allele Identifier: CA2058985370
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871344665
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830909C>A , CM000674.2:g.101830909C>A GRCh38
NC_000012.11:g.102224687C>A , CM000674.1:g.102224687C>A GRCh37
NC_000012.10:g.100748818C>A NCBI36
NG_021243.1:g.4959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-234G>T MANE Select ENSP00000299314.7:n.-234G>T
ENST00000299314.11:c.-234G>T ENSP00000299314.7:n.-234G>T
NM_024312.5:c.-234G>T MANE Select NP_077288.2:n.-234G>T
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Search 100 bp 3'