Canonical Allele Identifier: CA386296359
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761692A>C , CM000674.2:g.101761692A>C GRCh38
NC_000012.11:g.102155470A>C , CM000674.1:g.102155470A>C GRCh37
NC_000012.10:g.100679601A>C NCBI36
NG_021243.1:g.74176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2787T>G MANE Select ENSP00000299314.7:p.Asp929Glu
ENST00000299314.11:c.2787T>G ENSP00000299314.7:p.Asp929Glu
NM_024312.4:c.2787T>G NP_077288.2:p.Asp929Glu
XM_006719593.2:c.2787T>G XP_006719656.1:p.Asp929Glu
XM_011538731.1:c.2706T>G XP_011537033.1:p.Asp902Glu
XM_006719593.3:c.2787T>G XP_006719656.1:p.Asp929Glu
XM_011538731.2:c.2706T>G XP_011537033.1:p.Asp902Glu
XM_017019961.1:c.2571T>G XP_016875450.1:p.Asp857Glu
XM_017019962.2:c.1560T>G XP_016875451.1:p.Asp520Glu
NM_024312.5:c.2787T>G MANE Select NP_077288.2:p.Asp929Glu