Canonical Allele Identifier: CA259539
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033788
MyVariant Identifiers: chr9:g.34649454del (hg19) chr9:g.34649457del (hg38)
PubMed: PMID:11261429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649457del , CM000671.2:g.34649457del GRCh38
NC_000009.11:g.34649454del , CM000671.1:g.34649454del GRCh37
NC_000009.10:g.34639454del NCBI36
NG_009029.1:g.7820del
NG_028966.1:g.2273del
NG_009029.2:g.7869del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*540del ENSP00000509954.1:n.*540del
ENST00000378842.8:c.952del MANE Select ENSP00000368119.4:p.Leu318CysfsTer?
ENST00000378842.7:c.952del ENSP00000368119.3:p.Leu318CysfsTer?
ENST00000450095.6:c.625del ENSP00000401956.2:p.Leu209CysfsTer?
ENST00000488412.2:n.536del
ENST00000489643.6:n.1360del
ENST00000554550.5:c.*572del ENSP00000451435.1:n.*572del
ENST00000554638.5:n.1424del
ENST00000555020.5:n.1741del
ENST00000555754.1:n.400del
ENST00000556278.1:c.432+1001del ENSP00000451792.1:n.432+1001del
ENST00000557706.5:n.1527del
NM_000155.3:c.952del NP_000146.2:p.Leu318CysfsTer?
NM_001258332.1:c.625del NP_001245261.1:p.Leu209CysfsTer?
NM_000155.4:c.952del MANE Select NP_000146.2:p.Leu318CysfsTer?
NM_001258332.2:c.625del NP_001245261.1:p.Leu209CysfsTer?
Search 100 bp 5'
Search 100 bp 3'