Canonical Allele Identifier: CA2513454332
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830867C>A , CM000674.2:g.101830867C>A GRCh38
NC_000012.11:g.102224645C>A , CM000674.1:g.102224645C>A GRCh37
NC_000012.10:g.100748776C>A NCBI36
NG_021243.1:g.5001G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-192G>T MANE Select ENSP00000299314.7:n.-192G>T
ENST00000299314.11:c.-192G>T ENSP00000299314.7:n.-192G>T
NM_024312.4:c.-192G>T NP_077288.2:n.-192G>T
NM_024312.5:c.-192G>T MANE Select NP_077288.2:n.-192G>T
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