Canonical Allele Identifier: CA373281863
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648346A>G , CM000671.2:g.34648346A>G GRCh38
NC_000009.11:g.34648343A>G , CM000671.1:g.34648343A>G GRCh37
NC_000009.10:g.34638343A>G NCBI36
NG_009029.1:g.6709A>G
NG_028966.1:g.1162A>G
NG_009029.2:g.6758A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*165A>G ENSP00000509954.1:n.*165A>G
ENST00000378842.8:c.577A>G MANE Select ENSP00000368119.4:p.Ser193Gly
ENST00000378842.7:c.577A>G ENSP00000368119.3:p.Ser193Gly
ENST00000450095.6:c.250A>G ENSP00000401956.2:p.Ser84Gly
ENST00000472111.5:n.833A>G
ENST00000473506.6:c.*165A>G ENSP00000432839.2:n.*165A>G
ENST00000473529.5:n.736A>G
ENST00000485531.1:n.1171A>G
ENST00000487381.5:n.962A>G
ENST00000489643.6:n.352A>G
ENST00000554085.5:c.*321A>G ENSP00000450419.1:n.*321A>G
ENST00000554139.5:n.823A>G
ENST00000554550.5:c.*197A>G ENSP00000451435.1:n.*197A>G
ENST00000554638.5:n.1049A>G
ENST00000554897.5:c.*264A>G ENSP00000450942.1:n.*264A>G
ENST00000554944.5:n.926A>G
ENST00000555020.5:n.733A>G
ENST00000555086.5:n.581A>G
ENST00000555214.5:n.398A>G
ENST00000556244.1:c.564A>G
ENST00000556278.1:c.322A>G ENSP00000451792.1:p.Ser108Gly
ENST00000556494.5:n.698A>G
ENST00000557706.5:n.1139A>G
NM_000155.3:c.577A>G NP_000146.2:p.Ser193Gly
NM_001258332.1:c.250A>G NP_001245261.1:p.Ser84Gly
NM_000155.4:c.577A>G MANE Select NP_000146.2:p.Ser193Gly
NM_001258332.2:c.250A>G NP_001245261.1:p.Ser84Gly