Canonical Allele Identifier: CA373281855

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648342C>G (hg19) ; chr9:g.34648345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648345C>G , CM000671.2:g.34648345C>G	GRCh38
NC_000009.11:g.34648342C>G , CM000671.1:g.34648342C>G	GRCh37
NC_000009.10:g.34638342C>G	NCBI36
NG_009029.1:g.6708C>G
NG_028966.1:g.1161C>G
NG_009029.2:g.6757C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*164C>G	ENSP00000509954.1:n.*164C>G
ENST00000378842.8:c.576C>G MANE Select	ENSP00000368119.4:p.Ser192Arg
ENST00000378842.7:c.576C>G	ENSP00000368119.3:p.Ser192Arg
ENST00000450095.6:c.249C>G	ENSP00000401956.2:p.Ser83Arg
ENST00000472111.5:n.832C>G
ENST00000473506.6:c.*164C>G	ENSP00000432839.2:n.*164C>G
ENST00000473529.5:n.735C>G
ENST00000485531.1:n.1170C>G
ENST00000487381.5:n.961C>G
ENST00000489643.6:n.351C>G
ENST00000554085.5:c.*320C>G	ENSP00000450419.1:n.*320C>G
ENST00000554139.5:n.822C>G
ENST00000554550.5:c.*196C>G	ENSP00000451435.1:n.*196C>G
ENST00000554638.5:n.1048C>G
ENST00000554897.5:c.*263C>G	ENSP00000450942.1:n.*263C>G
ENST00000554944.5:n.925C>G
ENST00000555020.5:n.732C>G
ENST00000555086.5:n.580C>G
ENST00000555214.5:n.397C>G
ENST00000556244.1:c.563C>G
ENST00000556278.1:c.321C>G	ENSP00000451792.1:p.Ser107Arg
ENST00000556494.5:n.697C>G
ENST00000557706.5:n.1138C>G
NM_000155.3:c.576C>G	NP_000146.2:p.Ser192Arg
NM_001258332.1:c.249C>G	NP_001245261.1:p.Ser83Arg
NM_000155.4:c.576C>G MANE Select	NP_000146.2:p.Ser192Arg
NM_001258332.2:c.249C>G	NP_001245261.1:p.Ser83Arg