Canonical Allele Identifier: CA386292506
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753465T>C , CM000674.2:g.101753465T>C GRCh38
NC_000012.11:g.102147243T>C , CM000674.1:g.102147243T>C GRCh37
NC_000012.10:g.100671374T>C NCBI36
NG_021243.1:g.82403A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3509A>G MANE Select ENSP00000299314.7:p.Asp1170Gly
ENST00000299314.11:c.3509A>G ENSP00000299314.7:p.Asp1170Gly
ENST00000549738.5:c.407A>G ENSP00000450161.1:n.407A>G
NM_024312.4:c.3509A>G NP_077288.2:p.Asp1170Gly
XM_011538731.1:c.3428A>G XP_011537033.1:p.Asp1143Gly
XM_011538731.2:c.3428A>G XP_011537033.1:p.Asp1143Gly
XM_017019961.1:c.3293A>G XP_016875450.1:p.Asp1098Gly
XM_017019962.2:c.2282A>G XP_016875451.1:p.Asp761Gly
NM_024312.5:c.3509A>G MANE Select NP_077288.2:p.Asp1170Gly