Canonical Allele Identifier: CA373283745

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648814C>G (hg19) ; chr9:g.34648817C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648817C>G , CM000671.2:g.34648817C>G	GRCh38
NC_000009.11:g.34648814C>G , CM000671.1:g.34648814C>G	GRCh37
NC_000009.10:g.34638814C>G	NCBI36
NG_009029.1:g.7180C>G
NG_028966.1:g.1633C>G
NG_009029.2:g.7229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*331C>G	ENSP00000509954.1:n.*331C>G
ENST00000378842.8:c.743C>G MANE Select	ENSP00000368119.4:p.Thr248Arg
ENST00000378842.7:c.743C>G	ENSP00000368119.3:p.Thr248Arg
ENST00000450095.6:c.416C>G	ENSP00000401956.2:p.Thr139Arg
ENST00000473506.6:c.*331C>G	ENSP00000432839.2:n.*331C>G
ENST00000473529.5:n.902C>G
ENST00000487381.5:n.1433C>G
ENST00000489643.6:n.823C>G
ENST00000554085.5:c.*487C>G	ENSP00000450419.1:n.*487C>G
ENST00000554550.5:c.*363C>G	ENSP00000451435.1:n.*363C>G
ENST00000554638.5:n.1215C>G
ENST00000555020.5:n.1204C>G
ENST00000555086.5:n.747C>G
ENST00000555754.1:n.88C>G
ENST00000556244.1:c.730C>G
ENST00000556278.1:c.432+361C>G	ENSP00000451792.1:n.432+361C>G
ENST00000557706.5:n.1305C>G
NM_000155.3:c.743C>G	NP_000146.2:p.Thr248Arg
NM_001258332.1:c.416C>G	NP_001245261.1:p.Thr139Arg
NM_000155.4:c.743C>G MANE Select	NP_000146.2:p.Thr248Arg
NM_001258332.2:c.416C>G	NP_001245261.1:p.Thr139Arg