Canonical Allele Identifier: CA259522
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033775
MyVariant Identifiers: chr9:g.34649040T>G (hg19) chr9:g.34649043T>G (hg38)
PubMed: PMID:10408771
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649043T>G , CM000671.2:g.34649043T>G GRCh38
NC_000009.11:g.34649040T>G , CM000671.1:g.34649040T>G GRCh37
NC_000009.10:g.34639040T>G NCBI36
NG_009029.1:g.7406T>G
NG_028966.1:g.1859T>G
NG_009029.2:g.7455T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*454T>G ENSP00000509954.1:n.*454T>G
ENST00000378842.8:c.866T>G MANE Select ENSP00000368119.4:p.Leu289Arg
ENST00000378842.7:c.866T>G ENSP00000368119.3:p.Leu289Arg
ENST00000450095.6:c.539T>G ENSP00000401956.2:p.Leu180Arg
ENST00000488412.2:n.122T>G
ENST00000489643.6:n.946T>G
ENST00000554550.5:c.*486T>G ENSP00000451435.1:n.*486T>G
ENST00000554638.5:n.1338T>G
ENST00000555020.5:n.1327T>G
ENST00000555086.5:n.973T>G
ENST00000555754.1:n.314T>G
ENST00000556278.1:c.432+587T>G ENSP00000451792.1:n.432+587T>G
ENST00000557706.5:n.1441T>G
NM_000155.3:c.866T>G NP_000146.2:p.Leu289Arg
NM_001258332.1:c.539T>G NP_001245261.1:p.Leu180Arg
NM_000155.4:c.866T>G MANE Select NP_000146.2:p.Leu289Arg
NM_001258332.2:c.539T>G NP_001245261.1:p.Leu180Arg
Search 100 bp 5'
Search 100 bp 3'