Canonical Allele Identifier: CA259521
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033774
MyVariant Identifiers: chr9:g.34649039C>T (hg19) chr9:g.34649042C>T (hg38)
PubMed: PMID:17876724
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649042C>T , CM000671.2:g.34649042C>T GRCh38
NC_000009.11:g.34649039C>T , CM000671.1:g.34649039C>T GRCh37
NC_000009.10:g.34639039C>T NCBI36
NG_009029.1:g.7405C>T
NG_028966.1:g.1858C>T
NG_009029.2:g.7454C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*453C>T ENSP00000509954.1:n.*453C>T
ENST00000378842.8:c.865C>T MANE Select ENSP00000368119.4:p.Leu289Phe
ENST00000378842.7:c.865C>T ENSP00000368119.3:p.Leu289Phe
ENST00000450095.6:c.538C>T ENSP00000401956.2:p.Leu180Phe
ENST00000488412.2:n.121C>T
ENST00000489643.6:n.945C>T
ENST00000554550.5:c.*485C>T ENSP00000451435.1:n.*485C>T
ENST00000554638.5:n.1337C>T
ENST00000555020.5:n.1326C>T
ENST00000555086.5:n.972C>T
ENST00000555754.1:n.313C>T
ENST00000556278.1:c.432+586C>T ENSP00000451792.1:n.432+586C>T
ENST00000557706.5:n.1440C>T
NM_000155.3:c.865C>T NP_000146.2:p.Leu289Phe
NM_001258332.1:c.538C>T NP_001245261.1:p.Leu180Phe
NM_000155.4:c.865C>T MANE Select NP_000146.2:p.Leu289Phe
NM_001258332.2:c.538C>T NP_001245261.1:p.Leu180Phe
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