Canonical Allele Identifier: CA259429
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033828
MyVariant Identifiers: chr9:g.34648145T>G (hg19) chr9:g.34648148T>G (hg38)
PubMed: PMID:17041746
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648148T>G , CM000671.2:g.34648148T>G GRCh38
NC_000009.11:g.34648145T>G , CM000671.1:g.34648145T>G GRCh37
NC_000009.10:g.34638145T>G NCBI36
NG_009029.1:g.6511T>G
NG_028966.1:g.964T>G
NG_009029.2:g.6560T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*129T>G ENSP00000509954.1:n.*129T>G
ENST00000378842.8:c.541T>G MANE Select ENSP00000368119.4:p.Ser181Ala
ENST00000378842.7:c.541T>G ENSP00000368119.3:p.Ser181Ala
ENST00000450095.6:c.214T>G ENSP00000401956.2:p.Ser72Ala
ENST00000465543.6:n.880T>G
ENST00000472111.5:n.797T>G
ENST00000473506.6:c.*129T>G ENSP00000432839.2:n.*129T>G
ENST00000473529.5:n.700T>G
ENST00000485531.1:n.1135T>G
ENST00000487381.5:n.926T>G
ENST00000489643.6:n.316T>G
ENST00000554085.5:c.*285T>G ENSP00000450419.1:n.*285T>G
ENST00000554139.5:n.787T>G
ENST00000554550.5:c.*161T>G ENSP00000451435.1:n.*161T>G
ENST00000554638.5:n.1013T>G
ENST00000554897.5:c.*228T>G ENSP00000450942.1:n.*228T>G
ENST00000554944.5:n.890T>G
ENST00000555020.5:n.697T>G
ENST00000555086.5:n.545T>G
ENST00000555214.5:n.362T>G
ENST00000556244.1:c.528T>G
ENST00000556278.1:c.286T>G ENSP00000451792.1:p.Ser96Ala
ENST00000556494.5:n.662T>G
ENST00000557706.5:n.1103T>G
NM_000155.3:c.541T>G NP_000146.2:p.Ser181Ala
NM_001258332.1:c.214T>G NP_001245261.1:p.Ser72Ala
NM_000155.4:c.541T>G MANE Select NP_000146.2:p.Ser181Ala
NM_001258332.2:c.214T>G NP_001245261.1:p.Ser72Ala
Search 100 bp 5'
Search 100 bp 3'