Canonical Allele Identifier: CA386292423
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147226A>T (hg19) chr12:g.101753448A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753448A>T , CM000674.2:g.101753448A>T GRCh38
NC_000012.11:g.102147226A>T , CM000674.1:g.102147226A>T GRCh37
NC_000012.10:g.100671357A>T NCBI36
NG_021243.1:g.82420T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3526T>A MANE Select ENSP00000299314.7:p.Phe1176Ile
ENST00000299314.11:c.3526T>A ENSP00000299314.7:p.Phe1176Ile
ENST00000549738.5:c.424T>A ENSP00000450161.1:n.424T>A
NM_024312.4:c.3526T>A NP_077288.2:p.Phe1176Ile
XM_011538731.1:c.3445T>A XP_011537033.1:p.Phe1149Ile
XM_011538731.2:c.3445T>A XP_011537033.1:p.Phe1149Ile
XM_017019961.1:c.3310T>A XP_016875450.1:p.Phe1104Ile
XM_017019962.2:c.2299T>A XP_016875451.1:p.Phe767Ile
NM_024312.5:c.3526T>A MANE Select NP_077288.2:p.Phe1176Ile
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