Canonical Allele Identifier: CA373280970

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647923G>A , CM000671.2:g.34647923G>A	GRCh38
NC_000009.11:g.34647920G>A , CM000671.1:g.34647920G>A	GRCh37
NC_000009.10:g.34637920G>A	NCBI36
NG_009029.1:g.6286G>A
NG_028966.1:g.739G>A
NG_009029.2:g.6335G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.469G>A MANE Select	NP_000146.2:p.Val157Ile
ENST00000378842.8:c.469G>A MANE Select	ENSP00000368119.4:p.Val157Ile
NM_000155.3:c.469G>A	NP_000146.2:p.Val157Ile
NM_001258332.1:c.142G>A	NP_001245261.1:p.Val48Ile
NM_001258332.2:c.142G>A	NP_001245261.1:p.Val48Ile
ENST00000378842.7:c.469G>A	ENSP00000368119.3:p.Val157Ile
ENST00000450095.6:c.142G>A	ENSP00000401956.2:p.Val48Ile
ENST00000465543.6:n.808G>A
ENST00000472111.5:n.725G>A
ENST00000473506.6:c.*57G>A	ENSP00000432839.2:n.*57G>A
ENST00000473529.5:n.605G>A
ENST00000485531.1:n.910G>A
ENST00000487381.5:n.854G>A
ENST00000489643.6:n.283-192G>A
ENST00000554085.5:c.*213G>A	ENSP00000450419.1:n.*213G>A
ENST00000554139.5:n.648G>A
ENST00000554550.5:c.*89G>A	ENSP00000451435.1:n.*89G>A
ENST00000554638.5:n.941G>A
ENST00000554897.5:c.*89G>A	ENSP00000450942.1:n.*89G>A
ENST00000554944.5:n.665G>A
ENST00000555020.5:n.625G>A
ENST00000555086.5:n.473G>A
ENST00000555214.5:n.262-125G>A
ENST00000556244.1:c.456G>A
ENST00000556278.1:c.253-192G>A	ENSP00000451792.1:n.253-192G>A
ENST00000556494.5:n.590G>A
ENST00000557706.5:n.1031G>A
ENST00000691183.1:c.*57G>A	ENSP00000509954.1:n.*57G>A