Canonical Allele Identifier: CA259555
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033799
MyVariant Identifiers: chr9:g.34649478del (hg19) chr9:g.34649481del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649481del , CM000671.2:g.34649481del GRCh38
NC_000009.11:g.34649478del , CM000671.1:g.34649478del GRCh37
NC_000009.10:g.34639478del NCBI36
NG_009029.1:g.7844del
NG_028966.1:g.2297del
NG_009029.2:g.7893del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*564del ENSP00000509954.1:n.*564del
ENST00000378842.8:c.976del MANE Select ENSP00000368119.4:p.Leu326SerfsTer?
ENST00000378842.7:c.976del ENSP00000368119.3:p.Leu326SerfsTer?
ENST00000450095.6:c.649del ENSP00000401956.2:p.Leu217SerfsTer?
ENST00000488412.2:n.560del
ENST00000489643.6:n.1384del
ENST00000554550.5:c.*596del ENSP00000451435.1:n.*596del
ENST00000554638.5:n.1448del
ENST00000555020.5:n.1765del
ENST00000555754.1:n.424del
ENST00000556278.1:c.432+1025del ENSP00000451792.1:n.432+1025del
ENST00000557706.5:n.1551del
NM_000155.3:c.976del NP_000146.2:p.Leu326SerfsTer?
NM_001258332.1:c.649del NP_001245261.1:p.Leu217SerfsTer?
NM_000155.4:c.976del MANE Select NP_000146.2:p.Leu326SerfsTer?
NM_001258332.2:c.649del NP_001245261.1:p.Leu217SerfsTer?
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