Canonical Allele Identifier: CA259583
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs397515629
MyVariant Identifiers: chr9:g.34650378del (hg19) chr9:g.34650381del (hg38)
PubMed: PMID:12595586
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34650381del , CM000671.2:g.34650381del GRCh38
NC_000009.11:g.34650378del , CM000671.1:g.34650378del GRCh37
NC_000009.10:g.34640378del NCBI36
NG_009029.1:g.8744del
NG_028966.1:g.3197del
NG_009029.2:g.8793del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*660del ENSP00000509954.1:n.*660del
ENST00000378842.8:c.1072del MANE Select ENSP00000368119.4:p.Leu358Ter
ENST00000378842.7:c.1072del ENSP00000368119.3:p.Leu358Ter
ENST00000450095.6:c.745del ENSP00000401956.2:p.Leu249Ter
ENST00000488412.2:n.656del
ENST00000554550.5:c.*692del ENSP00000451435.1:n.*692del
ENST00000554638.5:n.1544del
ENST00000555754.1:n.520del
ENST00000556278.1:c.432+1925del ENSP00000451792.1:n.432+1925del
ENST00000557706.5:n.1647del
NM_000155.3:c.1072del NP_000146.2:p.Leu358Ter
NM_001258332.1:c.745del NP_001245261.1:p.Leu249Ter
NM_000155.4:c.1072del MANE Select NP_000146.2:p.Leu358Ter
NM_001258332.2:c.745del NP_001245261.1:p.Leu249Ter
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