Canonical Allele Identifier: CA259500

Gene: GALT

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

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