Canonical Allele Identifier: CA373282217

Gene: GALT

Linked Data

• COSMIC: COSM213518
• MyVariant Identifiers: chr9:g.34648415C>G (hg19) ; chr9:g.34648418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648418C>G , CM000671.2:g.34648418C>G	GRCh38
NC_000009.11:g.34648415C>G , CM000671.1:g.34648415C>G	GRCh37
NC_000009.10:g.34638415C>G	NCBI36
NG_009029.1:g.6781C>G
NG_028966.1:g.1234C>G
NG_009029.2:g.6830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*237C>G	ENSP00000509954.1:n.*237C>G
ENST00000378842.8:c.649C>G MANE Select	ENSP00000368119.4:p.Leu217Val
ENST00000378842.7:c.649C>G	ENSP00000368119.3:p.Leu217Val
ENST00000450095.6:c.322C>G	ENSP00000401956.2:p.Leu108Val
ENST00000472111.5:n.905C>G
ENST00000473506.6:c.*237C>G	ENSP00000432839.2:n.*237C>G
ENST00000473529.5:n.808C>G
ENST00000487381.5:n.1034C>G
ENST00000489643.6:n.424C>G
ENST00000554085.5:c.*393C>G	ENSP00000450419.1:n.*393C>G
ENST00000554550.5:c.*269C>G	ENSP00000451435.1:n.*269C>G
ENST00000554638.5:n.1121C>G
ENST00000555020.5:n.805C>G
ENST00000555086.5:n.653C>G
ENST00000555214.5:n.470C>G
ENST00000556244.1:c.636C>G
ENST00000556278.1:c.394C>G	ENSP00000451792.1:p.Leu132Val
ENST00000556494.5:n.770C>G
ENST00000557706.5:n.1211C>G
NM_000155.3:c.649C>G	NP_000146.2:p.Leu217Val
NM_001258332.1:c.322C>G	NP_001245261.1:p.Leu108Val
NM_000155.4:c.649C>G MANE Select	NP_000146.2:p.Leu217Val
NM_001258332.2:c.322C>G	NP_001245261.1:p.Leu108Val