Canonical Allele Identifier: CA1845637193
Community Standard Title: NM_000155.4(GALT):c.413C= (p.Thr138=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647867C= , CM000671.2:g.34647867C= GRCh38
NC_000009.11:g.34647864C= , CM000671.1:g.34647864C= GRCh37
NC_000009.10:g.34637864C= NCBI36
NG_009029.1:g.6230C=
NG_028966.1:g.683C=
NG_009029.2:g.6279C=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.413C= MANE Select NP_000146.2:p.Thr138=
ENST00000378842.8:c.413C= MANE Select ENSP00000368119.4:p.Thr138=
NM_000155.3:c.413C= NP_000146.2:p.Thr138=
NM_001258332.1:c.86C= NP_001245261.1:p.Thr29=
NM_001258332.2:c.86C= NP_001245261.1:p.Thr29=
ENST00000378842.7:c.413C= ENSP00000368119.3:p.Thr138=
ENST00000450095.6:c.86C= ENSP00000401956.2:p.Thr29=
ENST00000465543.6:n.752C=
ENST00000472111.5:n.669C=
ENST00000473506.6:c.*1C= ENSP00000432839.2:n.*1C=
ENST00000473529.5:n.549C=
ENST00000485531.1:n.854C=
ENST00000487381.5:n.798C=
ENST00000489643.6:n.283-248C=
ENST00000554085.5:c.*157C= ENSP00000450419.1:n.*157C=
ENST00000554139.5:n.592C=
ENST00000554550.5:c.*33C= ENSP00000451435.1:n.*33C=
ENST00000554638.5:n.885C=
ENST00000554897.5:c.*33C= ENSP00000450942.1:n.*33C=
ENST00000554944.5:n.609C=
ENST00000555020.5:n.569C=
ENST00000555086.5:n.417C=
ENST00000555214.5:n.262-181C=
ENST00000556244.1:c.400C=
ENST00000556278.1:c.253-248C= ENSP00000451792.1:n.253-248C=
ENST00000556494.5:n.534C=
ENST00000557541.5:n.557C=
ENST00000557706.5:n.975C=
ENST00000691183.1:c.*1C= ENSP00000509954.1:n.*1C=