Canonical Allele Identifier: CA2579371192

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647561dup , CM000671.2:g.34647561dup	GRCh38
NC_000009.11:g.34647558dup , CM000671.1:g.34647558dup	GRCh37
NC_000009.10:g.34637558dup	NCBI36
NG_009029.1:g.5924dup
NG_028966.1:g.377dup
NG_009029.2:g.5973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.322dup	ENSP00000509954.1:p.Ser108LysfsTer?
ENST00000378842.8:c.322dup MANE Select	ENSP00000368119.4:p.Ser108LysfsTer6
ENST00000378842.7:c.322dup	ENSP00000368119.3:p.Ser108LysfsTer6
ENST00000450095.6:c.51-271dup	ENSP00000401956.2:n.51-271dup
ENST00000465543.6:n.661dup
ENST00000472111.5:n.363dup
ENST00000473506.6:c.273dup	ENSP00000432839.2:p.Val92SerfsTer?
ENST00000473529.5:n.369dup
ENST00000485531.1:n.548dup
ENST00000487381.5:n.581dup
ENST00000489643.6:n.282+303dup
ENST00000554085.5:c.*66dup	ENSP00000450419.1:n.*66dup
ENST00000554139.5:n.375dup
ENST00000554330.5:n.270dup
ENST00000554550.5:c.253-271dup	ENSP00000451435.1:n.253-271dup
ENST00000554638.5:n.579dup
ENST00000554897.5:c.253-271dup	ENSP00000450942.1:n.253-271dup
ENST00000554944.5:n.303dup
ENST00000555020.5:n.352dup
ENST00000555086.5:n.326dup
ENST00000555214.5:n.261+303dup
ENST00000556157.1:n.446dup
ENST00000556244.1:c.309dup
ENST00000556278.1:c.252+303dup	ENSP00000451792.1:n.252+303dup
ENST00000556403.5:n.335dup
ENST00000556494.5:n.354dup
ENST00000557541.5:n.466dup
ENST00000557706.5:n.669dup
NM_000155.3:c.322dup	NP_000146.2:p.Ser108LysfsTer6
NM_001258332.1:c.51-271dup	NP_001245261.1:n.51-271dup
NM_000155.4:c.322dup MANE Select	NP_000146.2:p.Ser108LysfsTer6
NM_001258332.2:c.51-271dup	NP_001245261.1:n.51-271dup