Canonical Allele Identifier: CA373278854
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647242T>G , CM000671.2:g.34647242T>G GRCh38
NC_000009.11:g.34647239T>G , CM000671.1:g.34647239T>G GRCh37
NC_000009.10:g.34637239T>G NCBI36
NG_009029.1:g.5605T>G
NG_028966.1:g.58T>G
NG_009029.2:g.5654T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.236T>G ENSP00000509954.1:p.Ile79Ser
ENST00000378842.8:c.236T>G MANE Select ENSP00000368119.4:p.Ile79Ser
ENST00000378842.7:c.236T>G ENSP00000368119.3:p.Ile79Ser
ENST00000450095.6:c.34T>G ENSP00000401956.2:p.Ser12Ala
ENST00000465543.6:n.575T>G
ENST00000468099.2:n.276T>G
ENST00000472111.5:n.277T>G
ENST00000473506.6:c.236T>G ENSP00000432839.2:p.Ile79Ser
ENST00000473529.5:n.283T>G
ENST00000485531.1:n.229T>G
ENST00000487381.5:n.262T>G
ENST00000489643.6:n.266T>G
ENST00000554085.5:c.236T>G ENSP00000450419.1:p.Ile79Ser
ENST00000554139.5:n.289T>G
ENST00000554330.5:n.233T>G
ENST00000554550.5:c.236T>G ENSP00000451435.1:p.Ile79Ser
ENST00000554638.5:n.260T>G
ENST00000554897.5:c.236T>G ENSP00000450942.1:p.Ile79Ser
ENST00000554944.5:n.266T>G
ENST00000555020.5:n.266T>G
ENST00000555086.5:n.240T>G
ENST00000555214.5:n.245T>G
ENST00000556157.1:n.343T>G
ENST00000556244.1:c.120T>G
ENST00000556278.1:c.236T>G ENSP00000451792.1:p.Ile79Ser
ENST00000556403.5:n.249T>G
ENST00000556494.5:n.268T>G
ENST00000557541.5:n.429T>G
ENST00000557706.5:n.350T>G
NM_000155.3:c.236T>G NP_000146.2:p.Ile79Ser
NM_001258332.1:c.34T>G NP_001245261.1:p.Ser12Ala
NM_000155.4:c.236T>G MANE Select NP_000146.2:p.Ile79Ser
NM_001258332.2:c.34T>G NP_001245261.1:p.Ser12Ala