Canonical Allele Identifier: CA373282313

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648436C>A (hg19) ; chr9:g.34648439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648439C>A , CM000671.2:g.34648439C>A	GRCh38
NC_000009.11:g.34648436C>A , CM000671.1:g.34648436C>A	GRCh37
NC_000009.10:g.34638436C>A	NCBI36
NG_009029.1:g.6802C>A
NG_028966.1:g.1255C>A
NG_009029.2:g.6851C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*258C>A	ENSP00000509954.1:n.*258C>A
ENST00000378842.8:c.670C>A MANE Select	ENSP00000368119.4:p.Gln224Lys
ENST00000378842.7:c.670C>A	ENSP00000368119.3:p.Gln224Lys
ENST00000450095.6:c.343C>A	ENSP00000401956.2:p.Gln115Lys
ENST00000472111.5:n.926C>A
ENST00000473506.6:c.*258C>A	ENSP00000432839.2:n.*258C>A
ENST00000473529.5:n.829C>A
ENST00000487381.5:n.1055C>A
ENST00000489643.6:n.445C>A
ENST00000554085.5:c.*414C>A	ENSP00000450419.1:n.*414C>A
ENST00000554550.5:c.*290C>A	ENSP00000451435.1:n.*290C>A
ENST00000554638.5:n.1142C>A
ENST00000555020.5:n.826C>A
ENST00000555086.5:n.674C>A
ENST00000555214.5:n.491C>A
ENST00000555754.1:n.15C>A
ENST00000556244.1:c.657C>A
ENST00000556278.1:c.415C>A	ENSP00000451792.1:p.Gln139Lys
ENST00000556494.5:n.791C>A
ENST00000557706.5:n.1232C>A
NM_000155.3:c.670C>A	NP_000146.2:p.Gln224Lys
NM_001258332.1:c.343C>A	NP_001245261.1:p.Gln115Lys
NM_000155.4:c.670C>A MANE Select	NP_000146.2:p.Gln224Lys
NM_001258332.2:c.343C>A	NP_001245261.1:p.Gln115Lys