Canonical Allele Identifier: CA259526
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033782

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649059del , CM000671.2:g.34649059del GRCh38
NC_000009.11:g.34649056del , CM000671.1:g.34649056del GRCh37
NC_000009.10:g.34639056del NCBI36
NG_009029.1:g.7422del
NG_028966.1:g.1875del
NG_009029.2:g.7471del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*470del ENSP00000509954.1:n.*470del
ENST00000378842.8:c.882del MANE Select ENSP00000368119.4:p.Tyr296ThrfsTer?
ENST00000378842.7:c.882del ENSP00000368119.3:p.Tyr296ThrfsTer?
ENST00000450095.6:c.555del ENSP00000401956.2:p.Tyr187ThrfsTer?
ENST00000488412.2:n.138del
ENST00000489643.6:n.962del
ENST00000554550.5:c.*502del ENSP00000451435.1:n.*502del
ENST00000554638.5:n.1354del
ENST00000555020.5:n.1343del
ENST00000555086.5:n.989del
ENST00000555754.1:n.330del
ENST00000556278.1:c.432+603del ENSP00000451792.1:n.432+603del
ENST00000557706.5:n.1457del
NM_000155.3:c.882del NP_000146.2:p.Tyr296ThrfsTer?
NM_001258332.1:c.555del NP_001245261.1:p.Tyr187ThrfsTer?
NM_000155.4:c.882del MANE Select NP_000146.2:p.Tyr296ThrfsTer?
NM_001258332.2:c.555del NP_001245261.1:p.Tyr187ThrfsTer?