Canonical Allele Identifier: CA373281493
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648137T>G , CM000671.2:g.34648137T>G GRCh38
NC_000009.11:g.34648134T>G , CM000671.1:g.34648134T>G GRCh37
NC_000009.10:g.34638134T>G NCBI36
NG_009029.1:g.6500T>G
NG_028966.1:g.953T>G
NG_009029.2:g.6549T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*118T>G ENSP00000509954.1:n.*118T>G
ENST00000378842.8:c.530T>G MANE Select ENSP00000368119.4:p.Met177Arg
ENST00000378842.7:c.530T>G ENSP00000368119.3:p.Met177Arg
ENST00000450095.6:c.203T>G ENSP00000401956.2:p.Met68Arg
ENST00000465543.6:n.869T>G
ENST00000472111.5:n.786T>G
ENST00000473506.6:c.*118T>G ENSP00000432839.2:n.*118T>G
ENST00000473529.5:n.689T>G
ENST00000485531.1:n.1124T>G
ENST00000487381.5:n.915T>G
ENST00000489643.6:n.305T>G
ENST00000554085.5:c.*274T>G ENSP00000450419.1:n.*274T>G
ENST00000554139.5:n.776T>G
ENST00000554550.5:c.*150T>G ENSP00000451435.1:n.*150T>G
ENST00000554638.5:n.1002T>G
ENST00000554897.5:c.*217T>G ENSP00000450942.1:n.*217T>G
ENST00000554944.5:n.879T>G
ENST00000555020.5:n.686T>G
ENST00000555086.5:n.534T>G
ENST00000555214.5:n.351T>G
ENST00000556244.1:c.517T>G
ENST00000556278.1:c.275T>G ENSP00000451792.1:p.Met92Arg
ENST00000556494.5:n.651T>G
ENST00000557706.5:n.1092T>G
NM_000155.3:c.530T>G NP_000146.2:p.Met177Arg
NM_001258332.1:c.203T>G NP_001245261.1:p.Met68Arg
NM_000155.4:c.530T>G MANE Select NP_000146.2:p.Met177Arg
NM_001258332.2:c.203T>G NP_001245261.1:p.Met68Arg