Canonical Allele Identifier: CA259500
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25262
ClinVar RCV Id: RCV000780282 RCV001826499
dbSNP Id: rs111033762
MyVariant Identifiers: chr9:g.34648850_34648861del (hg19) chr9:g.34648853_34648864del (hg38)
PubMed: PMID:11261429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648853_34648864del , CM000671.2:g.34648853_34648864del GRCh38
NC_000009.11:g.34648850_34648861del , CM000671.1:g.34648850_34648861del GRCh37
NC_000009.10:g.34638850_34638861del NCBI36
NG_028966.1:g.1669_1680del
NG_009029.2:g.7265_7276del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*367_*378del ENSP00000509954.1:n.*367_*378del
ENST00000378842.8:c.779_790del MANE Select ENSP00000368119.4:p.His260_Arg263del
ENST00000378842.7:c.779_790del ENSP00000368119.3:p.His260_Arg263del
ENST00000450095.6:c.452_463del ENSP00000401956.2:p.His151_Arg154del
ENST00000473506.6:c.*367_*378del ENSP00000432839.2:n.*367_*378del
ENST00000489643.6:n.859_870del
ENST00000554085.5:c.*523_*534del ENSP00000450419.1:n.*523_*534del
ENST00000554550.5:c.*399_*410del ENSP00000451435.1:n.*399_*410del
ENST00000554638.5:n.1251_1262del
ENST00000555020.5:n.1240_1251del
ENST00000555086.5:n.783_794del
ENST00000555754.1:n.124_135del
ENST00000556244.1:c.766_777del
ENST00000556278.1:c.432+397_432+408del ENSP00000451792.1:n.432+397_432+408del
ENST00000557706.5:n.1341_1352del
NM_000155.3:c.779_790del NP_000146.2:p.His260_Arg263del
NM_001258332.1:c.452_463del NP_001245261.1:p.His151_Arg154del
NM_000155.4:c.779_790del MANE Select NP_000146.2:p.His260_Arg263del
NM_001258332.2:c.452_463del NP_001245261.1:p.His151_Arg154del
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