Canonical Allele Identifier: CA373278859
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647243-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647243C>G , CM000671.2:g.34647243C>G GRCh38
NC_000009.11:g.34647240C>G , CM000671.1:g.34647240C>G GRCh37
NC_000009.10:g.34637240C>G NCBI36
NG_009029.1:g.5606C>G
NG_028966.1:g.59C>G
NG_009029.2:g.5655C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.237C>G ENSP00000509954.1:p.Ile79Met
ENST00000378842.8:c.237C>G MANE Select ENSP00000368119.4:p.Ile79Met
ENST00000378842.7:c.237C>G ENSP00000368119.3:p.Ile79Met
ENST00000450095.6:c.35C>G ENSP00000401956.2:p.Ser12Cys
ENST00000465543.6:n.576C>G
ENST00000468099.2:n.277C>G
ENST00000472111.5:n.278C>G
ENST00000473506.6:c.237C>G ENSP00000432839.2:p.Ile79Met
ENST00000473529.5:n.284C>G
ENST00000485531.1:n.230C>G
ENST00000487381.5:n.263C>G
ENST00000489643.6:n.267C>G
ENST00000554085.5:c.237C>G ENSP00000450419.1:p.Ile79Met
ENST00000554139.5:n.290C>G
ENST00000554330.5:n.234C>G
ENST00000554550.5:c.237C>G ENSP00000451435.1:p.Ile79Met
ENST00000554638.5:n.261C>G
ENST00000554897.5:c.237C>G ENSP00000450942.1:p.Ile79Met
ENST00000554944.5:n.267C>G
ENST00000555020.5:n.267C>G
ENST00000555086.5:n.241C>G
ENST00000555214.5:n.246C>G
ENST00000556157.1:n.344C>G
ENST00000556244.1:c.121C>G
ENST00000556278.1:c.237C>G ENSP00000451792.1:p.Ile79Met
ENST00000556403.5:n.250C>G
ENST00000556494.5:n.269C>G
ENST00000557541.5:n.430C>G
ENST00000557706.5:n.351C>G
NM_000155.3:c.237C>G NP_000146.2:p.Ile79Met
NM_001258332.1:c.35C>G NP_001245261.1:p.Ser12Cys
NM_000155.4:c.237C>G MANE Select NP_000146.2:p.Ile79Met
NM_001258332.2:c.35C>G NP_001245261.1:p.Ser12Cys