Canonical Allele Identifier: CA5036260

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649424T>A , CM000671.2:g.34649424T>A	GRCh38
NC_000009.11:g.34649421T>A , CM000671.1:g.34649421T>A	GRCh37
NC_000009.10:g.34639421T>A	NCBI36
NG_009029.1:g.7787T>A
NG_028966.1:g.2240T>A
NG_009029.2:g.7836T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.919T>A MANE Select	NP_000146.2:p.Ser307Thr
ENST00000378842.8:c.919T>A MANE Select	ENSP00000368119.4:p.Ser307Thr
NM_000155.3:c.919T>A	NP_000146.2:p.Ser307Thr
NM_001258332.1:c.592T>A	NP_001245261.1:p.Ser198Thr
NM_001258332.2:c.592T>A	NP_001245261.1:p.Ser198Thr
ENST00000378842.7:c.919T>A	ENSP00000368119.3:p.Ser307Thr
ENST00000450095.6:c.592T>A	ENSP00000401956.2:p.Ser198Thr
ENST00000488412.2:n.503T>A
ENST00000489643.6:n.1327T>A
ENST00000554550.5:c.*539T>A	ENSP00000451435.1:n.*539T>A
ENST00000554638.5:n.1391T>A
ENST00000555020.5:n.1708T>A
ENST00000555754.1:n.367T>A
ENST00000556278.1:c.432+968T>A	ENSP00000451792.1:n.432+968T>A
ENST00000557706.5:n.1494T>A
ENST00000691183.1:c.*507T>A	ENSP00000509954.1:n.*507T>A