Canonical Allele Identifier: CA5036276

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649554C>A , CM000671.2:g.34649554C>A	GRCh38
NC_000009.11:g.34649551C>A , CM000671.1:g.34649551C>A	GRCh37
NC_000009.10:g.34639551C>A	NCBI36
NG_009029.1:g.7917C>A
NG_028966.1:g.2370C>A
NG_009029.2:g.7966C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.1049C>A MANE Select	NP_000146.2:p.Thr350Asn
ENST00000378842.8:c.1049C>A MANE Select	ENSP00000368119.4:p.Thr350Asn
NM_000155.3:c.1049C>A	NP_000146.2:p.Thr350Asn
NM_001258332.1:c.722C>A	NP_001245261.1:p.Thr241Asn
NM_001258332.2:c.722C>A	NP_001245261.1:p.Thr241Asn
ENST00000378842.7:c.1049C>A	ENSP00000368119.3:p.Thr350Asn
ENST00000450095.6:c.722C>A	ENSP00000401956.2:p.Thr241Asn
ENST00000488412.2:n.633C>A
ENST00000489643.6:n.1457C>A
ENST00000554550.5:c.*669C>A	ENSP00000451435.1:n.*669C>A
ENST00000554638.5:n.1521C>A
ENST00000555020.5:n.1838C>A
ENST00000555754.1:n.497C>A
ENST00000556278.1:c.432+1098C>A	ENSP00000451792.1:n.432+1098C>A
ENST00000557706.5:n.1624C>A
ENST00000691183.1:c.*637C>A	ENSP00000509954.1:n.*637C>A