Canonical Allele Identifier: CA259380
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033684
MyVariant Identifiers: chr9:g.34647843T>G (hg19) chr9:g.34647846T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647846T>G , CM000671.2:g.34647846T>G GRCh38
NC_000009.11:g.34647843T>G , CM000671.1:g.34647843T>G GRCh37
NC_000009.10:g.34637843T>G NCBI36
NG_009029.1:g.6209T>G
NG_028966.1:g.662T>G
NG_009029.2:g.6258T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.343T>G ENSP00000509954.1:p.Ser115Ala
ENST00000378842.8:c.392T>G MANE Select ENSP00000368119.4:p.Phe131Cys
ENST00000378842.7:c.392T>G ENSP00000368119.3:p.Phe131Cys
ENST00000450095.6:c.65T>G ENSP00000401956.2:p.Phe22Cys
ENST00000465543.6:n.731T>G
ENST00000472111.5:n.648T>G
ENST00000473506.6:c.343T>G ENSP00000432839.2:p.Ser115Ala
ENST00000473529.5:n.528T>G
ENST00000485531.1:n.833T>G
ENST00000487381.5:n.777T>G
ENST00000489643.6:n.283-269T>G
ENST00000554085.5:c.*136T>G ENSP00000450419.1:n.*136T>G
ENST00000554139.5:n.571T>G
ENST00000554330.5:n.555T>G
ENST00000554550.5:c.*12T>G ENSP00000451435.1:n.*12T>G
ENST00000554638.5:n.864T>G
ENST00000554897.5:c.*12T>G ENSP00000450942.1:n.*12T>G
ENST00000554944.5:n.588T>G
ENST00000555020.5:n.548T>G
ENST00000555086.5:n.396T>G
ENST00000555214.5:n.262-202T>G
ENST00000556244.1:c.379T>G
ENST00000556278.1:c.253-269T>G ENSP00000451792.1:n.253-269T>G
ENST00000556494.5:n.513T>G
ENST00000557541.5:n.536T>G
ENST00000557706.5:n.954T>G
NM_000155.3:c.392T>G NP_000146.2:p.Phe131Cys
NM_001258332.1:c.65T>G NP_001245261.1:p.Phe22Cys
NM_000155.4:c.392T>G MANE Select NP_000146.2:p.Phe131Cys
NM_001258332.2:c.65T>G NP_001245261.1:p.Phe22Cys
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