Canonical Allele Identifier: CA259574
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033816
MyVariant Identifiers: chr9:g.34649549del (hg19) chr9:g.34649552del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649552del , CM000671.2:g.34649552del GRCh38
NC_000009.11:g.34649549del , CM000671.1:g.34649549del GRCh37
NC_000009.10:g.34639549del NCBI36
NG_009029.1:g.7915del
NG_028966.1:g.2368del
NG_009029.2:g.7964del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*635del ENSP00000509954.1:n.*635del
ENST00000378842.8:c.1047del MANE Select ENSP00000368119.4:p.Thr350ProfsTer9
ENST00000378842.7:c.1047del ENSP00000368119.3:p.Thr350ProfsTer9
ENST00000450095.6:c.720del ENSP00000401956.2:p.Thr241ProfsTer9
ENST00000488412.2:n.631del
ENST00000489643.6:n.1455del
ENST00000554550.5:c.*667del ENSP00000451435.1:n.*667del
ENST00000554638.5:n.1519del
ENST00000555020.5:n.1836del
ENST00000555754.1:n.495del
ENST00000556278.1:c.432+1096del ENSP00000451792.1:n.432+1096del
ENST00000557706.5:n.1622del
NM_000155.3:c.1047del NP_000146.2:p.Thr350ProfsTer9
NM_001258332.1:c.720del NP_001245261.1:p.Thr241ProfsTer9
NM_000155.4:c.1047del MANE Select NP_000146.2:p.Thr350ProfsTer9
NM_001258332.2:c.720del NP_001245261.1:p.Thr241ProfsTer9
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