Canonical Allele Identifier: CA16605848
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 392632
ClinVar RCV Id: RCV000422602 RCV001851092
dbSNP Id: rs1057524572
MyVariant Identifiers: chr9:g.34647535C>G (hg19) chr9:g.34647538C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647538C>G , CM000671.2:g.34647538C>G GRCh38
NC_000009.11:g.34647535C>G , CM000671.1:g.34647535C>G GRCh37
NC_000009.10:g.34637535C>G NCBI36
NG_009029.1:g.5901C>G
NG_028966.1:g.354C>G
NG_009029.2:g.5950C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.299C>G ENSP00000509954.1:p.Pro100Arg
ENST00000378842.8:c.299C>G MANE Select ENSP00000368119.4:p.Pro100Arg
ENST00000378842.7:c.299C>G ENSP00000368119.3:p.Pro100Arg
ENST00000450095.6:c.50+280C>G ENSP00000401956.2:n.50+280C>G
ENST00000465543.6:n.638C>G
ENST00000472111.5:n.340C>G
ENST00000473506.6:c.253-3C>G ENSP00000432839.2:n.253-3C>G
ENST00000473529.5:n.346C>G
ENST00000485531.1:n.525C>G
ENST00000487381.5:n.558C>G
ENST00000489643.6:n.282+280C>G
ENST00000554085.5:c.*43C>G ENSP00000450419.1:n.*43C>G
ENST00000554139.5:n.352C>G
ENST00000554330.5:n.250-3C>G
ENST00000554550.5:c.252+280C>G ENSP00000451435.1:n.252+280C>G
ENST00000554638.5:n.556C>G
ENST00000554897.5:c.252+280C>G ENSP00000450942.1:n.252+280C>G
ENST00000554944.5:n.283-3C>G
ENST00000555020.5:n.329C>G
ENST00000555086.5:n.303C>G
ENST00000555214.5:n.261+280C>G
ENST00000556157.1:n.423C>G
ENST00000556244.1:c.286C>G
ENST00000556278.1:c.252+280C>G ENSP00000451792.1:n.252+280C>G
ENST00000556403.5:n.312C>G
ENST00000556494.5:n.331C>G
ENST00000557541.5:n.446-3C>G
ENST00000557706.5:n.646C>G
NM_000155.3:c.299C>G NP_000146.2:p.Pro100Arg
NM_001258332.1:c.50+280C>G NP_001245261.1:n.50+280C>G
NM_000155.4:c.299C>G MANE Select NP_000146.2:p.Pro100Arg
NM_001258332.2:c.50+280C>G NP_001245261.1:n.50+280C>G
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