Canonical Allele Identifier: CA259442
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25218
ClinVar RCV Id: RCV000022154
dbSNP Id: rs111033731
MyVariant Identifiers: chr9:g.34648329A>G (hg19) chr9:g.34648332A>G (hg38)
PubMed: PMID:7887416 PMID:20547145
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648332A>G , CM000671.2:g.34648332A>G GRCh38
NC_000009.11:g.34648329A>G , CM000671.1:g.34648329A>G GRCh37
NC_000009.10:g.34638329A>G NCBI36
NG_009029.1:g.6695A>G
NG_028966.1:g.1148A>G
NG_009029.2:g.6744A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*153-2A>G ENSP00000509954.1:n.*153-2A>G
ENST00000378842.8:c.565-2A>G MANE Select ENSP00000368119.4:n.565-2A>G
ENST00000378842.7:c.565-2A>G ENSP00000368119.3:n.565-2A>G
ENST00000450095.6:c.238-2A>G ENSP00000401956.2:n.238-2A>G
ENST00000472111.5:n.821-2A>G
ENST00000473506.6:c.*153-2A>G ENSP00000432839.2:n.*153-2A>G
ENST00000473529.5:n.724-2A>G
ENST00000485531.1:n.1159-2A>G
ENST00000487381.5:n.950-2A>G
ENST00000489643.6:n.340-2A>G
ENST00000554085.5:c.*309-2A>G ENSP00000450419.1:n.*309-2A>G
ENST00000554139.5:n.811-2A>G
ENST00000554550.5:c.*185-2A>G ENSP00000451435.1:n.*185-2A>G
ENST00000554638.5:n.1037-2A>G
ENST00000554897.5:c.*252-2A>G ENSP00000450942.1:n.*252-2A>G
ENST00000554944.5:n.914-2A>G
ENST00000555020.5:n.721-2A>G
ENST00000555086.5:n.569-2A>G
ENST00000555214.5:n.386-2A>G
ENST00000556244.1:c.552-2A>G
ENST00000556278.1:c.310-2A>G ENSP00000451792.1:n.310-2A>G
ENST00000556494.5:n.686-2A>G
ENST00000557706.5:n.1127-2A>G
NM_000155.3:c.565-2A>G NP_000146.2:n.565-2A>G
NM_001258332.1:c.238-2A>G NP_001245261.1:n.238-2A>G
NM_000155.4:c.565-2A>G MANE Select NP_000146.2:n.565-2A>G
NM_001258332.2:c.238-2A>G NP_001245261.1:n.238-2A>G
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