Canonical Allele Identifier: CA5036278

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649562C>G , CM000671.2:g.34649562C>G	GRCh38
NC_000009.11:g.34649559C>G , CM000671.1:g.34649559C>G	GRCh37
NC_000009.10:g.34639559C>G	NCBI36
NG_009029.1:g.7925C>G
NG_028966.1:g.2378C>G
NG_009029.2:g.7974C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.1057C>G MANE Select	NP_000146.2:p.Gln353Glu
ENST00000378842.8:c.1057C>G MANE Select	ENSP00000368119.4:p.Gln353Glu
NM_000155.3:c.1057C>G	NP_000146.2:p.Gln353Glu
NM_001258332.1:c.730C>G	NP_001245261.1:p.Gln244Glu
NM_001258332.2:c.730C>G	NP_001245261.1:p.Gln244Glu
ENST00000378842.7:c.1057C>G	ENSP00000368119.3:p.Gln353Glu
ENST00000450095.6:c.730C>G	ENSP00000401956.2:p.Gln244Glu
ENST00000488412.2:n.641C>G
ENST00000489643.6:n.1465C>G
ENST00000554550.5:c.*677C>G	ENSP00000451435.1:n.*677C>G
ENST00000554638.5:n.1529C>G
ENST00000555020.5:n.1846C>G
ENST00000555754.1:n.505C>G
ENST00000556278.1:c.432+1106C>G	ENSP00000451792.1:n.432+1106C>G
ENST00000557706.5:n.1632C>G
ENST00000691183.1:c.*645C>G	ENSP00000509954.1:n.*645C>G