Canonical Allele Identifier: CA2689808668
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647988-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647988A>G , CM000671.2:g.34647988A>G GRCh38
NC_000009.11:g.34647985A>G , CM000671.1:g.34647985A>G GRCh37
NC_000009.10:g.34637985A>G NCBI36
NG_009029.1:g.6351A>G
NG_028966.1:g.804A>G
NG_009029.2:g.6400A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*95+27A>G ENSP00000509954.1:n.*95+27A>G
ENST00000378842.8:c.507+27A>G MANE Select ENSP00000368119.4:n.507+27A>G
ENST00000378842.7:c.507+27A>G ENSP00000368119.3:n.507+27A>G
ENST00000450095.6:c.180+27A>G ENSP00000401956.2:n.180+27A>G
ENST00000465543.6:n.846+27A>G
ENST00000472111.5:n.763+27A>G
ENST00000473506.6:c.*95+27A>G ENSP00000432839.2:n.*95+27A>G
ENST00000473529.5:n.643+27A>G
ENST00000485531.1:n.975A>G
ENST00000487381.5:n.892+27A>G
ENST00000489643.6:n.283-127A>G
ENST00000554085.5:c.*251+27A>G ENSP00000450419.1:n.*251+27A>G
ENST00000554139.5:n.686+27A>G
ENST00000554550.5:c.*127+27A>G ENSP00000451435.1:n.*127+27A>G
ENST00000554638.5:n.979+27A>G
ENST00000554897.5:c.*127+27A>G ENSP00000450942.1:n.*127+27A>G
ENST00000554944.5:n.730A>G
ENST00000555020.5:n.663+27A>G
ENST00000555086.5:n.511+27A>G
ENST00000555214.5:n.262-60A>G
ENST00000556244.1:c.494+27A>G
ENST00000556278.1:c.253-127A>G ENSP00000451792.1:n.253-127A>G
ENST00000556494.5:n.628+27A>G
ENST00000557706.5:n.1069+27A>G
NM_000155.3:c.507+27A>G NP_000146.2:n.507+27A>G
NM_001258332.1:c.180+27A>G NP_001245261.1:n.180+27A>G
NM_000155.4:c.507+27A>G MANE Select NP_000146.2:n.507+27A>G
NM_001258332.2:c.180+27A>G NP_001245261.1:n.180+27A>G