Canonical Allele Identifier: CA373280308
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647668C>G , CM000671.2:g.34647668C>G GRCh38
NC_000009.11:g.34647665C>G , CM000671.1:g.34647665C>G GRCh37
NC_000009.10:g.34637665C>G NCBI36
NG_009029.1:g.6031C>G
NG_028966.1:g.484C>G
NG_009029.2:g.6080C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+101C>G ENSP00000509954.1:n.328+101C>G
ENST00000378842.8:c.340C>G MANE Select ENSP00000368119.4:p.His114Asp
ENST00000378842.7:c.340C>G ENSP00000368119.3:p.His114Asp
ENST00000450095.6:c.51-164C>G ENSP00000401956.2:n.51-164C>G
ENST00000465543.6:n.679C>G
ENST00000472111.5:n.470C>G
ENST00000473506.6:c.291C>G ENSP00000432839.2:p.Ile97Met
ENST00000473529.5:n.476C>G
ENST00000485531.1:n.655C>G
ENST00000487381.5:n.599C>G
ENST00000489643.6:n.282+410C>G
ENST00000554085.5:c.*84C>G ENSP00000450419.1:n.*84C>G
ENST00000554139.5:n.393C>G
ENST00000554330.5:n.377C>G
ENST00000554550.5:c.253-164C>G ENSP00000451435.1:n.253-164C>G
ENST00000554638.5:n.686C>G
ENST00000554897.5:c.253-164C>G ENSP00000450942.1:n.253-164C>G
ENST00000554944.5:n.410C>G
ENST00000555020.5:n.370C>G
ENST00000555086.5:n.344C>G
ENST00000555214.5:n.262-380C>G
ENST00000556157.1:n.464C>G
ENST00000556244.1:c.327C>G
ENST00000556278.1:c.252+410C>G ENSP00000451792.1:n.252+410C>G
ENST00000556403.5:n.442C>G
ENST00000556494.5:n.461C>G
ENST00000557541.5:n.484C>G
ENST00000557706.5:n.776C>G
NM_000155.3:c.340C>G NP_000146.2:p.His114Asp
NM_001258332.1:c.51-164C>G NP_001245261.1:n.51-164C>G
NM_000155.4:c.340C>G MANE Select NP_000146.2:p.His114Asp
NM_001258332.2:c.51-164C>G NP_001245261.1:n.51-164C>G