Canonical Allele Identifier: CA373281566
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648147T>G , CM000671.2:g.34648147T>G GRCh38
NC_000009.11:g.34648144T>G , CM000671.1:g.34648144T>G GRCh37
NC_000009.10:g.34638144T>G NCBI36
NG_009029.1:g.6510T>G
NG_028966.1:g.963T>G
NG_009029.2:g.6559T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*128T>G ENSP00000509954.1:n.*128T>G
ENST00000378842.8:c.540T>G MANE Select ENSP00000368119.4:p.Cys180Trp
ENST00000378842.7:c.540T>G ENSP00000368119.3:p.Cys180Trp
ENST00000450095.6:c.213T>G ENSP00000401956.2:p.Cys71Trp
ENST00000465543.6:n.879T>G
ENST00000472111.5:n.796T>G
ENST00000473506.6:c.*128T>G ENSP00000432839.2:n.*128T>G
ENST00000473529.5:n.699T>G
ENST00000485531.1:n.1134T>G
ENST00000487381.5:n.925T>G
ENST00000489643.6:n.315T>G
ENST00000554085.5:c.*284T>G ENSP00000450419.1:n.*284T>G
ENST00000554139.5:n.786T>G
ENST00000554550.5:c.*160T>G ENSP00000451435.1:n.*160T>G
ENST00000554638.5:n.1012T>G
ENST00000554897.5:c.*227T>G ENSP00000450942.1:n.*227T>G
ENST00000554944.5:n.889T>G
ENST00000555020.5:n.696T>G
ENST00000555086.5:n.544T>G
ENST00000555214.5:n.361T>G
ENST00000556244.1:c.527T>G
ENST00000556278.1:c.285T>G ENSP00000451792.1:p.Cys95Trp
ENST00000556494.5:n.661T>G
ENST00000557706.5:n.1102T>G
NM_000155.3:c.540T>G NP_000146.2:p.Cys180Trp
NM_001258332.1:c.213T>G NP_001245261.1:p.Cys71Trp
NM_000155.4:c.540T>G MANE Select NP_000146.2:p.Cys180Trp
NM_001258332.2:c.213T>G NP_001245261.1:p.Cys71Trp