Canonical Allele Identifier: CA259536
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033785
MyVariant Identifiers: chr9:g.34649451del (hg19) chr9:g.34649454del (hg38)
PubMed: PMID:10408771
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649454del , CM000671.2:g.34649454del GRCh38
NC_000009.11:g.34649451del , CM000671.1:g.34649451del GRCh37
NC_000009.10:g.34639451del NCBI36
NG_009029.1:g.7817del
NG_028966.1:g.2270del
NG_009029.2:g.7866del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*537del ENSP00000509954.1:n.*537del
ENST00000378842.8:c.949del MANE Select ENSP00000368119.4:p.Gln317SerfsTer?
ENST00000378842.7:c.949del ENSP00000368119.3:p.Gln317SerfsTer?
ENST00000450095.6:c.622del ENSP00000401956.2:p.Gln208SerfsTer?
ENST00000488412.2:n.533del
ENST00000489643.6:n.1357del
ENST00000554550.5:c.*569del ENSP00000451435.1:n.*569del
ENST00000554638.5:n.1421del
ENST00000555020.5:n.1738del
ENST00000555754.1:n.397del
ENST00000556278.1:c.432+998del ENSP00000451792.1:n.432+998del
ENST00000557706.5:n.1524del
NM_000155.3:c.949del NP_000146.2:p.Gln317SerfsTer?
NM_001258332.1:c.622del NP_001245261.1:p.Gln208SerfsTer?
NM_000155.4:c.949del MANE Select NP_000146.2:p.Gln317SerfsTer?
NM_001258332.2:c.622del NP_001245261.1:p.Gln208SerfsTer?
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