Canonical Allele Identifier: CA2058985337
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830883T= , CM000674.2:g.101830883T= GRCh38
NC_000012.11:g.102224661T= , CM000674.1:g.102224661T= GRCh37
NC_000012.10:g.100748792T= NCBI36
NG_021243.1:g.4985A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-208A= MANE Select ENSP00000299314.7:n.-208A=
ENST00000299314.11:c.-208A= ENSP00000299314.7:n.-208A=
NM_024312.5:c.-208A= MANE Select NP_077288.2:n.-208A=