Canonical Allele Identifier: CA2058985391
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871346136

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830923G>T , CM000674.2:g.101830923G>T GRCh38
NC_000012.11:g.102224701G>T , CM000674.1:g.102224701G>T GRCh37
NC_000012.10:g.100748832G>T NCBI36
NG_021243.1:g.4945C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-248C>A MANE Select ENSP00000299314.7:n.-248C>A
ENST00000299314.11:c.-248C>A ENSP00000299314.7:n.-248C>A
NM_024312.5:c.-248C>A MANE Select NP_077288.2:n.-248C>A