Canonical Allele Identifier: CA1845639639
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648789T= , CM000671.2:g.34648789T= GRCh38
NC_000009.11:g.34648786T= , CM000671.1:g.34648786T= GRCh37
NC_000009.10:g.34638786T= NCBI36
NG_009029.1:g.7152T=
NG_028966.1:g.1605T=
NG_009029.2:g.7201T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*303T= ENSP00000509954.1:n.*303T=
ENST00000378842.8:c.715T= MANE Select ENSP00000368119.4:p.Trp239=
ENST00000378842.7:c.715T= ENSP00000368119.3:p.Trp239=
ENST00000450095.6:c.388T= ENSP00000401956.2:p.Trp130=
ENST00000473506.6:c.*303T= ENSP00000432839.2:n.*303T=
ENST00000473529.5:n.874T=
ENST00000487381.5:n.1405T=
ENST00000489643.6:n.795T=
ENST00000554085.5:c.*459T= ENSP00000450419.1:n.*459T=
ENST00000554550.5:c.*335T= ENSP00000451435.1:n.*335T=
ENST00000554638.5:n.1187T=
ENST00000555020.5:n.1176T=
ENST00000555086.5:n.719T=
ENST00000555754.1:n.60T=
ENST00000556244.1:c.702T=
ENST00000556278.1:c.432+333T= ENSP00000451792.1:n.432+333T=
ENST00000557706.5:n.1277T=
NM_000155.3:c.715T= NP_000146.2:p.Trp239=
NM_001258332.1:c.388T= NP_001245261.1:p.Trp130=
NM_000155.4:c.715T= MANE Select NP_000146.2:p.Trp239=
NM_001258332.2:c.388T= NP_001245261.1:p.Trp130=