Canonical Allele Identifier: CA373285344

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649560A>G , CM000671.2:g.34649560A>G	GRCh38
NC_000009.11:g.34649557A>G , CM000671.1:g.34649557A>G	GRCh37
NC_000009.10:g.34639557A>G	NCBI36
NG_009029.1:g.7923A>G
NG_028966.1:g.2376A>G
NG_009029.2:g.7972A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.1055A>G MANE Select	NP_000146.2:p.Glu352Gly
ENST00000378842.8:c.1055A>G MANE Select	ENSP00000368119.4:p.Glu352Gly
NM_000155.3:c.1055A>G	NP_000146.2:p.Glu352Gly
NM_001258332.1:c.728A>G	NP_001245261.1:p.Glu243Gly
NM_001258332.2:c.728A>G	NP_001245261.1:p.Glu243Gly
ENST00000378842.7:c.1055A>G	ENSP00000368119.3:p.Glu352Gly
ENST00000450095.6:c.728A>G	ENSP00000401956.2:p.Glu243Gly
ENST00000488412.2:n.639A>G
ENST00000489643.6:n.1463A>G
ENST00000554550.5:c.*675A>G	ENSP00000451435.1:n.*675A>G
ENST00000554638.5:n.1527A>G
ENST00000555020.5:n.1844A>G
ENST00000555754.1:n.503A>G
ENST00000556278.1:c.432+1104A>G	ENSP00000451792.1:n.432+1104A>G
ENST00000557706.5:n.1630A>G
ENST00000691183.1:c.*643A>G	ENSP00000509954.1:n.*643A>G