Canonical Allele Identifier: CA373283877

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648838T>G (hg19) ; chr9:g.34648841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648841T>G , CM000671.2:g.34648841T>G	GRCh38
NC_000009.11:g.34648838T>G , CM000671.1:g.34648838T>G	GRCh37
NC_000009.10:g.34638838T>G	NCBI36
NG_009029.1:g.7204T>G
NG_028966.1:g.1657T>G
NG_009029.2:g.7253T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*355T>G	ENSP00000509954.1:n.*355T>G
ENST00000378842.8:c.767T>G MANE Select	ENSP00000368119.4:p.Leu256Arg
ENST00000378842.7:c.767T>G	ENSP00000368119.3:p.Leu256Arg
ENST00000450095.6:c.440T>G	ENSP00000401956.2:p.Leu147Arg
ENST00000473506.6:c.*355T>G	ENSP00000432839.2:n.*355T>G
ENST00000489643.6:n.847T>G
ENST00000554085.5:c.*511T>G	ENSP00000450419.1:n.*511T>G
ENST00000554550.5:c.*387T>G	ENSP00000451435.1:n.*387T>G
ENST00000554638.5:n.1239T>G
ENST00000555020.5:n.1228T>G
ENST00000555086.5:n.771T>G
ENST00000555754.1:n.112T>G
ENST00000556244.1:c.754T>G
ENST00000556278.1:c.432+385T>G	ENSP00000451792.1:n.432+385T>G
ENST00000557706.5:n.1329T>G
NM_000155.3:c.767T>G	NP_000146.2:p.Leu256Arg
NM_001258332.1:c.440T>G	NP_001245261.1:p.Leu147Arg
NM_000155.4:c.767T>G MANE Select	NP_000146.2:p.Leu256Arg
NM_001258332.2:c.440T>G	NP_001245261.1:p.Leu147Arg