Canonical Allele Identifier: CA2841055833

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648846dup , CM000671.2:g.34648846dup	GRCh38
NC_000009.11:g.34648843dup , CM000671.1:g.34648843dup	GRCh37
NC_000009.10:g.34638843dup	NCBI36
NG_028966.1:g.1662dup
NG_009029.2:g.7258dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*360dup	ENSP00000509954.1:n.*360dup
ENST00000378842.8:c.772dup MANE Select	ENSP00000368119.4:p.Arg258ProfsTer9
ENST00000378842.7:c.772dup	ENSP00000368119.3:p.Arg258ProfsTer9
ENST00000450095.6:c.445dup	ENSP00000401956.2:p.Arg149ProfsTer9
ENST00000473506.6:c.*360dup	ENSP00000432839.2:n.*360dup
ENST00000489643.6:n.852dup
ENST00000554085.5:c.*516dup	ENSP00000450419.1:n.*516dup
ENST00000554550.5:c.*392dup	ENSP00000451435.1:n.*392dup
ENST00000554638.5:n.1244dup
ENST00000555020.5:n.1233dup
ENST00000555086.5:n.776dup
ENST00000555754.1:n.117dup
ENST00000556244.1:c.759dup
ENST00000556278.1:c.432+390dup	ENSP00000451792.1:n.432+390dup
ENST00000557706.5:n.1334dup
NM_000155.3:c.772dup	NP_000146.2:p.Arg258ProfsTer9
NM_001258332.1:c.445dup	NP_001245261.1:p.Arg149ProfsTer9
NM_000155.4:c.772dup MANE Select	NP_000146.2:p.Arg258ProfsTer9
NM_001258332.2:c.445dup	NP_001245261.1:p.Arg149ProfsTer9