Canonical Allele Identifier: CA373280538

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647836G>A , CM000671.2:g.34647836G>A	GRCh38
NC_000009.11:g.34647833G>A , CM000671.1:g.34647833G>A	GRCh37
NC_000009.10:g.34637833G>A	NCBI36
NG_009029.1:g.6199G>A
NG_028966.1:g.652G>A
NG_009029.2:g.6248G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.382G>A MANE Select	NP_000146.2:p.Val128Ile
ENST00000378842.8:c.382G>A MANE Select	ENSP00000368119.4:p.Val128Ile
NM_000155.3:c.382G>A	NP_000146.2:p.Val128Ile
NM_001258332.1:c.55G>A	NP_001245261.1:p.Val19Ile
NM_001258332.2:c.55G>A	NP_001245261.1:p.Val19Ile
ENST00000378842.7:c.382G>A	ENSP00000368119.3:p.Val128Ile
ENST00000450095.6:c.55G>A	ENSP00000401956.2:p.Val19Ile
ENST00000465543.6:n.721G>A
ENST00000472111.5:n.638G>A
ENST00000473506.6:c.333G>A	ENSP00000432839.2:p.Arg111=
ENST00000473529.5:n.518G>A
ENST00000485531.1:n.823G>A
ENST00000487381.5:n.767G>A
ENST00000489643.6:n.283-279G>A
ENST00000554085.5:c.*126G>A	ENSP00000450419.1:n.*126G>A
ENST00000554139.5:n.561G>A
ENST00000554330.5:n.545G>A
ENST00000554550.5:c.*2G>A	ENSP00000451435.1:n.*2G>A
ENST00000554638.5:n.854G>A
ENST00000554897.5:c.*2G>A	ENSP00000450942.1:n.*2G>A
ENST00000554944.5:n.578G>A
ENST00000555020.5:n.538G>A
ENST00000555086.5:n.386G>A
ENST00000555214.5:n.262-212G>A
ENST00000556244.1:c.369G>A
ENST00000556278.1:c.253-279G>A	ENSP00000451792.1:n.253-279G>A
ENST00000556494.5:n.503G>A
ENST00000557541.5:n.526G>A
ENST00000557706.5:n.944G>A
ENST00000691183.1:c.333G>A	ENSP00000509954.1:p.Arg111=