Canonical Allele Identifier: CA373280913

Gene: GALT

Linked Data

• dbSNP Id: rs1179369402
• gnomAD v2: 9-34647909-C-A
• gnomAD v4: 9-34647912-C-A
• MyVariant Identifiers: chr9:g.34647909C>A (hg19) ; chr9:g.34647912C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647912C>A , CM000671.2:g.34647912C>A	GRCh38
NC_000009.11:g.34647909C>A , CM000671.1:g.34647909C>A	GRCh37
NC_000009.10:g.34637909C>A	NCBI36
NG_009029.1:g.6275C>A
NG_028966.1:g.728C>A
NG_009029.2:g.6324C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*46C>A	ENSP00000509954.1:n.*46C>A
ENST00000378842.8:c.458C>A MANE Select	ENSP00000368119.4:p.Ala153Glu
ENST00000378842.7:c.458C>A	ENSP00000368119.3:p.Ala153Glu
ENST00000450095.6:c.131C>A	ENSP00000401956.2:p.Ala44Glu
ENST00000465543.6:n.797C>A
ENST00000472111.5:n.714C>A
ENST00000473506.6:c.*46C>A	ENSP00000432839.2:n.*46C>A
ENST00000473529.5:n.594C>A
ENST00000485531.1:n.899C>A
ENST00000487381.5:n.843C>A
ENST00000489643.6:n.283-203C>A
ENST00000554085.5:c.*202C>A	ENSP00000450419.1:n.*202C>A
ENST00000554139.5:n.637C>A
ENST00000554550.5:c.*78C>A	ENSP00000451435.1:n.*78C>A
ENST00000554638.5:n.930C>A
ENST00000554897.5:c.*78C>A	ENSP00000450942.1:n.*78C>A
ENST00000554944.5:n.654C>A
ENST00000555020.5:n.614C>A
ENST00000555086.5:n.462C>A
ENST00000555214.5:n.262-136C>A
ENST00000556244.1:c.445C>A
ENST00000556278.1:c.253-203C>A	ENSP00000451792.1:n.253-203C>A
ENST00000556494.5:n.579C>A
ENST00000557706.5:n.1020C>A
NM_000155.3:c.458C>A	NP_000146.2:p.Ala153Glu
NM_001258332.1:c.131C>A	NP_001245261.1:p.Ala44Glu
NM_000155.4:c.458C>A MANE Select	NP_000146.2:p.Ala153Glu
NM_001258332.2:c.131C>A	NP_001245261.1:p.Ala44Glu