Canonical Allele Identifier: CA373282111
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648398A>G , CM000671.2:g.34648398A>G GRCh38
NC_000009.11:g.34648395A>G , CM000671.1:g.34648395A>G GRCh37
NC_000009.10:g.34638395A>G NCBI36
NG_009029.1:g.6761A>G
NG_028966.1:g.1214A>G
NG_009029.2:g.6810A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*217A>G ENSP00000509954.1:n.*217A>G
ENST00000378842.8:c.629A>G MANE Select ENSP00000368119.4:p.Lys210Arg
ENST00000378842.7:c.629A>G ENSP00000368119.3:p.Lys210Arg
ENST00000450095.6:c.302A>G ENSP00000401956.2:p.Lys101Arg
ENST00000472111.5:n.885A>G
ENST00000473506.6:c.*217A>G ENSP00000432839.2:n.*217A>G
ENST00000473529.5:n.788A>G
ENST00000487381.5:n.1014A>G
ENST00000489643.6:n.404A>G
ENST00000554085.5:c.*373A>G ENSP00000450419.1:n.*373A>G
ENST00000554550.5:c.*249A>G ENSP00000451435.1:n.*249A>G
ENST00000554638.5:n.1101A>G
ENST00000555020.5:n.785A>G
ENST00000555086.5:n.633A>G
ENST00000555214.5:n.450A>G
ENST00000556244.1:c.616A>G
ENST00000556278.1:c.374A>G ENSP00000451792.1:p.Lys125Arg
ENST00000556494.5:n.750A>G
ENST00000557706.5:n.1191A>G
NM_000155.3:c.629A>G NP_000146.2:p.Lys210Arg
NM_001258332.1:c.302A>G NP_001245261.1:p.Lys101Arg
NM_000155.4:c.629A>G MANE Select NP_000146.2:p.Lys210Arg
NM_001258332.2:c.302A>G NP_001245261.1:p.Lys101Arg