Canonical Allele Identifier: CA259447
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033729
MyVariant Identifiers: chr9:g.34648360T>G (hg19) chr9:g.34648363T>G (hg38)
PubMed: PMID:10408771
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648363T>G , CM000671.2:g.34648363T>G GRCh38
NC_000009.11:g.34648360T>G , CM000671.1:g.34648360T>G GRCh37
NC_000009.10:g.34638360T>G NCBI36
NG_009029.1:g.6726T>G
NG_028966.1:g.1179T>G
NG_009029.2:g.6775T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*182T>G ENSP00000509954.1:n.*182T>G
ENST00000378842.8:c.594T>G MANE Select ENSP00000368119.4:p.Ile198Met
ENST00000378842.7:c.594T>G ENSP00000368119.3:p.Ile198Met
ENST00000450095.6:c.267T>G ENSP00000401956.2:p.Ile89Met
ENST00000472111.5:n.850T>G
ENST00000473506.6:c.*182T>G ENSP00000432839.2:n.*182T>G
ENST00000473529.5:n.753T>G
ENST00000485531.1:n.1188T>G
ENST00000487381.5:n.979T>G
ENST00000489643.6:n.369T>G
ENST00000554085.5:c.*338T>G ENSP00000450419.1:n.*338T>G
ENST00000554139.5:n.840T>G
ENST00000554550.5:c.*214T>G ENSP00000451435.1:n.*214T>G
ENST00000554638.5:n.1066T>G
ENST00000554897.5:c.*281T>G ENSP00000450942.1:n.*281T>G
ENST00000554944.5:n.943T>G
ENST00000555020.5:n.750T>G
ENST00000555086.5:n.598T>G
ENST00000555214.5:n.415T>G
ENST00000556244.1:c.581T>G
ENST00000556278.1:c.339T>G ENSP00000451792.1:p.Ile113Met
ENST00000556494.5:n.715T>G
ENST00000557706.5:n.1156T>G
NM_000155.3:c.594T>G NP_000146.2:p.Ile198Met
NM_001258332.1:c.267T>G NP_001245261.1:p.Ile89Met
NM_000155.4:c.594T>G MANE Select NP_000146.2:p.Ile198Met
NM_001258332.2:c.267T>G NP_001245261.1:p.Ile89Met
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