Canonical Allele Identifier: CA373280121
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647559C>G , CM000671.2:g.34647559C>G GRCh38
NC_000009.11:g.34647556C>G , CM000671.1:g.34647556C>G GRCh37
NC_000009.10:g.34637556C>G NCBI36
NG_009029.1:g.5922C>G
NG_028966.1:g.375C>G
NG_009029.2:g.5971C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.320C>G ENSP00000509954.1:p.Pro107Arg
ENST00000378842.8:c.320C>G MANE Select ENSP00000368119.4:p.Pro107Arg
ENST00000378842.7:c.320C>G ENSP00000368119.3:p.Pro107Arg
ENST00000450095.6:c.51-273C>G ENSP00000401956.2:n.51-273C>G
ENST00000465543.6:n.659C>G
ENST00000472111.5:n.361C>G
ENST00000473506.6:c.271C>G ENSP00000432839.2:p.Pro91Ala
ENST00000473529.5:n.367C>G
ENST00000485531.1:n.546C>G
ENST00000487381.5:n.579C>G
ENST00000489643.6:n.282+301C>G
ENST00000554085.5:c.*64C>G ENSP00000450419.1:n.*64C>G
ENST00000554139.5:n.373C>G
ENST00000554330.5:n.268C>G
ENST00000554550.5:c.253-273C>G ENSP00000451435.1:n.253-273C>G
ENST00000554638.5:n.577C>G
ENST00000554897.5:c.253-273C>G ENSP00000450942.1:n.253-273C>G
ENST00000554944.5:n.301C>G
ENST00000555020.5:n.350C>G
ENST00000555086.5:n.324C>G
ENST00000555214.5:n.261+301C>G
ENST00000556157.1:n.444C>G
ENST00000556244.1:c.307C>G
ENST00000556278.1:c.252+301C>G ENSP00000451792.1:n.252+301C>G
ENST00000556403.5:n.333C>G
ENST00000556494.5:n.352C>G
ENST00000557541.5:n.464C>G
ENST00000557706.5:n.667C>G
NM_000155.3:c.320C>G NP_000146.2:p.Pro107Arg
NM_001258332.1:c.51-273C>G NP_001245261.1:n.51-273C>G
NM_000155.4:c.320C>G MANE Select NP_000146.2:p.Pro107Arg
NM_001258332.2:c.51-273C>G NP_001245261.1:n.51-273C>G