Canonical Allele Identifier: CA259471
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 37351
ClinVar RCV Id: RCV000022179
dbSNP Id: rs111033751
MyVariant Identifiers: chr9:g.34648442C>G (hg19) chr9:g.34648445C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648445C>G , CM000671.2:g.34648445C>G GRCh38
NC_000009.11:g.34648442C>G , CM000671.1:g.34648442C>G GRCh37
NC_000009.10:g.34638442C>G NCBI36
NG_009029.1:g.6808C>G
NG_028966.1:g.1261C>G
NG_009029.2:g.6857C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*264C>G ENSP00000509954.1:n.*264C>G
ENST00000378842.8:c.676C>G MANE Select ENSP00000368119.4:p.Leu226Val
ENST00000378842.7:c.676C>G ENSP00000368119.3:p.Leu226Val
ENST00000450095.6:c.349C>G ENSP00000401956.2:p.Leu117Val
ENST00000472111.5:n.932C>G
ENST00000473506.6:c.*264C>G ENSP00000432839.2:n.*264C>G
ENST00000473529.5:n.835C>G
ENST00000487381.5:n.1061C>G
ENST00000489643.6:n.451C>G
ENST00000554085.5:c.*420C>G ENSP00000450419.1:n.*420C>G
ENST00000554550.5:c.*296C>G ENSP00000451435.1:n.*296C>G
ENST00000554638.5:n.1148C>G
ENST00000555020.5:n.832C>G
ENST00000555086.5:n.680C>G
ENST00000555214.5:n.497C>G
ENST00000555754.1:n.21C>G
ENST00000556244.1:c.663C>G
ENST00000556278.1:c.421C>G ENSP00000451792.1:p.Leu141Val
ENST00000556494.5:n.797C>G
ENST00000557706.5:n.1238C>G
NM_000155.3:c.676C>G NP_000146.2:p.Leu226Val
NM_001258332.1:c.349C>G NP_001245261.1:p.Leu117Val
NM_000155.4:c.676C>G MANE Select NP_000146.2:p.Leu226Val
NM_001258332.2:c.349C>G NP_001245261.1:p.Leu117Val
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