Canonical Allele Identifier: CA2689808695

Gene: GALT

Linked Data

• gnomAD v4: 9-34648158-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648163dup , CM000671.2:g.34648163dup	GRCh38
NC_000009.11:g.34648160dup , CM000671.1:g.34648160dup	GRCh37
NC_000009.10:g.34638160dup	NCBI36
NG_009029.1:g.6526dup
NG_028966.1:g.979dup
NG_009029.2:g.6575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*144dup	ENSP00000509954.1:n.*144dup
ENST00000378842.8:c.556dup MANE Select	ENSP00000368119.4:p.His186ProfsTer17
ENST00000378842.7:c.556dup	ENSP00000368119.3:p.His186ProfsTer17
ENST00000450095.6:c.229dup	ENSP00000401956.2:p.His77ProfsTer17
ENST00000465543.6:n.895dup
ENST00000472111.5:n.812dup
ENST00000473506.6:c.*144dup	ENSP00000432839.2:n.*144dup
ENST00000473529.5:n.715dup
ENST00000485531.1:n.1150dup
ENST00000487381.5:n.941dup
ENST00000489643.6:n.331dup
ENST00000554085.5:c.*300dup	ENSP00000450419.1:n.*300dup
ENST00000554139.5:n.802dup
ENST00000554550.5:c.*176dup	ENSP00000451435.1:n.*176dup
ENST00000554638.5:n.1028dup
ENST00000554897.5:c.*243dup	ENSP00000450942.1:n.*243dup
ENST00000554944.5:n.905dup
ENST00000555020.5:n.712dup
ENST00000555086.5:n.560dup
ENST00000555214.5:n.377dup
ENST00000556244.1:c.543dup
ENST00000556278.1:c.301dup	ENSP00000451792.1:p.His101ProfsTer17
ENST00000556494.5:n.677dup
ENST00000557706.5:n.1118dup
NM_000155.3:c.556dup	NP_000146.2:p.His186ProfsTer17
NM_001258332.1:c.229dup	NP_001245261.1:p.His77ProfsTer17
NM_000155.4:c.556dup MANE Select	NP_000146.2:p.His186ProfsTer17
NM_001258332.2:c.229dup	NP_001245261.1:p.His77ProfsTer17