Canonical Allele Identifier: CA373280393

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647681C>A (hg19) ; chr9:g.34647684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647684C>A , CM000671.2:g.34647684C>A	GRCh38
NC_000009.11:g.34647681C>A , CM000671.1:g.34647681C>A	GRCh37
NC_000009.10:g.34637681C>A	NCBI36
NG_009029.1:g.6047C>A
NG_028966.1:g.500C>A
NG_009029.2:g.6096C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+117C>A	ENSP00000509954.1:n.328+117C>A
ENST00000378842.8:c.356C>A MANE Select	ENSP00000368119.4:p.Ala119Glu
ENST00000378842.7:c.356C>A	ENSP00000368119.3:p.Ala119Glu
ENST00000450095.6:c.51-148C>A	ENSP00000401956.2:n.51-148C>A
ENST00000465543.6:n.695C>A
ENST00000472111.5:n.486C>A
ENST00000473506.6:c.307C>A	ENSP00000432839.2:p.Gln103Lys
ENST00000473529.5:n.492C>A
ENST00000485531.1:n.671C>A
ENST00000487381.5:n.615C>A
ENST00000489643.6:n.282+426C>A
ENST00000554085.5:c.*100C>A	ENSP00000450419.1:n.*100C>A
ENST00000554139.5:n.409C>A
ENST00000554330.5:n.393C>A
ENST00000554550.5:c.253-148C>A	ENSP00000451435.1:n.253-148C>A
ENST00000554638.5:n.702C>A
ENST00000554897.5:c.253-148C>A	ENSP00000450942.1:n.253-148C>A
ENST00000554944.5:n.426C>A
ENST00000555020.5:n.386C>A
ENST00000555086.5:n.360C>A
ENST00000555214.5:n.262-364C>A
ENST00000556157.1:n.480C>A
ENST00000556244.1:c.343C>A
ENST00000556278.1:c.252+426C>A	ENSP00000451792.1:n.252+426C>A
ENST00000556403.5:n.458C>A
ENST00000556494.5:n.477C>A
ENST00000557541.5:n.500C>A
ENST00000557706.5:n.792C>A
NM_000155.3:c.356C>A	NP_000146.2:p.Ala119Glu
NM_001258332.1:c.51-148C>A	NP_001245261.1:n.51-148C>A
NM_000155.4:c.356C>A MANE Select	NP_000146.2:p.Ala119Glu
NM_001258332.2:c.51-148C>A	NP_001245261.1:n.51-148C>A