Canonical Allele Identifier: CA373284840

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649451C>A (hg19) ; chr9:g.34649454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649454C>A , CM000671.2:g.34649454C>A	GRCh38
NC_000009.11:g.34649451C>A , CM000671.1:g.34649451C>A	GRCh37
NC_000009.10:g.34639451C>A	NCBI36
NG_009029.1:g.7817C>A
NG_028966.1:g.2270C>A
NG_009029.2:g.7866C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*537C>A	ENSP00000509954.1:n.*537C>A
ENST00000378842.8:c.949C>A MANE Select	ENSP00000368119.4:p.Gln317Lys
ENST00000378842.7:c.949C>A	ENSP00000368119.3:p.Gln317Lys
ENST00000450095.6:c.622C>A	ENSP00000401956.2:p.Gln208Lys
ENST00000488412.2:n.533C>A
ENST00000489643.6:n.1357C>A
ENST00000554550.5:c.*569C>A	ENSP00000451435.1:n.*569C>A
ENST00000554638.5:n.1421C>A
ENST00000555020.5:n.1738C>A
ENST00000555754.1:n.397C>A
ENST00000556278.1:c.432+998C>A	ENSP00000451792.1:n.432+998C>A
ENST00000557706.5:n.1524C>A
NM_000155.3:c.949C>A	NP_000146.2:p.Gln317Lys
NM_001258332.1:c.622C>A	NP_001245261.1:p.Gln208Lys
NM_000155.4:c.949C>A MANE Select	NP_000146.2:p.Gln317Lys
NM_001258332.2:c.622C>A	NP_001245261.1:p.Gln208Lys