Canonical Allele Identifier: CA2539665956

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648155_34648156insACAT , CM000671.2:g.34648155_34648156insACAT	GRCh38
NC_000009.11:g.34648152_34648153insACAT , CM000671.1:g.34648152_34648153insACAT	GRCh37
NC_000009.10:g.34638152_34638153insACAT	NCBI36
NG_009029.1:g.6518_6519insACAT
NG_028966.1:g.971_972insACAT
NG_009029.2:g.6567_6568insACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*136_*137insACAT	ENSP00000509954.1:n.*136_*137insACAT
ENST00000378842.8:c.548_549insACAT MANE Select	ENSP00000368119.4:p.His186ProfsTer18
ENST00000378842.7:c.548_549insACAT	ENSP00000368119.3:p.His186ProfsTer18
ENST00000450095.6:c.221_222insACAT	ENSP00000401956.2:p.His77ProfsTer18
ENST00000465543.6:n.887_888insACAT
ENST00000472111.5:n.804_805insACAT
ENST00000473506.6:c.*136_*137insACAT	ENSP00000432839.2:n.*136_*137insACAT
ENST00000473529.5:n.707_708insACAT
ENST00000485531.1:n.1142_1143insACAT
ENST00000487381.5:n.933_934insACAT
ENST00000489643.6:n.323_324insACAT
ENST00000554085.5:c.*292_*293insACAT	ENSP00000450419.1:n.*292_*293insACAT
ENST00000554139.5:n.794_795insACAT
ENST00000554550.5:c.*168_*169insACAT	ENSP00000451435.1:n.*168_*169insACAT
ENST00000554638.5:n.1020_1021insACAT
ENST00000554897.5:c.*235_*236insACAT	ENSP00000450942.1:n.*235_*236insACAT
ENST00000554944.5:n.897_898insACAT
ENST00000555020.5:n.704_705insACAT
ENST00000555086.5:n.552_553insACAT
ENST00000555214.5:n.369_370insACAT
ENST00000556244.1:c.535_536insACAT
ENST00000556278.1:c.293_294insACAT	ENSP00000451792.1:p.His101ProfsTer18
ENST00000556494.5:n.669_670insACAT
ENST00000557706.5:n.1110_1111insACAT
NM_000155.3:c.548_549insACAT	NP_000146.2:p.His186ProfsTer18
NM_001258332.1:c.221_222insACAT	NP_001245261.1:p.His77ProfsTer18
NM_000155.4:c.548_549insACAT MANE Select	NP_000146.2:p.His186ProfsTer18
NM_001258332.2:c.221_222insACAT	NP_001245261.1:p.His77ProfsTer18