Canonical Allele Identifier: CA16041308
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 370940
ClinVar RCV Id: RCV000410093
dbSNP Id: rs1057516883
MyVariant Identifiers: chr9:g.34648436del (hg19) chr9:g.34648439del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648439del , CM000671.2:g.34648439del GRCh38
NC_000009.11:g.34648436del , CM000671.1:g.34648436del GRCh37
NC_000009.10:g.34638436del NCBI36
NG_009029.1:g.6802del
NG_028966.1:g.1255del
NG_009029.2:g.6851del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*258del ENSP00000509954.1:n.*258del
ENST00000378842.8:c.670del MANE Select ENSP00000368119.4:p.Gln224ArgfsTer11
ENST00000378842.7:c.670del ENSP00000368119.3:p.Gln224ArgfsTer11
ENST00000450095.6:c.343del ENSP00000401956.2:p.Gln115ArgfsTer11
ENST00000472111.5:n.926del
ENST00000473506.6:c.*258del ENSP00000432839.2:n.*258del
ENST00000473529.5:n.829del
ENST00000487381.5:n.1055del
ENST00000489643.6:n.445del
ENST00000554085.5:c.*414del ENSP00000450419.1:n.*414del
ENST00000554550.5:c.*290del ENSP00000451435.1:n.*290del
ENST00000554638.5:n.1142del
ENST00000555020.5:n.826del
ENST00000555086.5:n.674del
ENST00000555214.5:n.491del
ENST00000555754.1:n.15del
ENST00000556244.1:c.657del
ENST00000556278.1:c.415del ENSP00000451792.1:p.Gln139ArgfsTer7
ENST00000556494.5:n.791del
ENST00000557706.5:n.1232del
NM_000155.3:c.670del NP_000146.2:p.Gln224ArgfsTer11
NM_001258332.1:c.343del NP_001245261.1:p.Gln115ArgfsTer11
NM_000155.4:c.670del MANE Select NP_000146.2:p.Gln224ArgfsTer11
NM_001258332.2:c.343del NP_001245261.1:p.Gln115ArgfsTer11
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