Canonical Allele Identifier: CA373284667

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649416C>G (hg19) ; chr9:g.34649419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649419C>G , CM000671.2:g.34649419C>G	GRCh38
NC_000009.11:g.34649416C>G , CM000671.1:g.34649416C>G	GRCh37
NC_000009.10:g.34639416C>G	NCBI36
NG_009029.1:g.7782C>G
NG_028966.1:g.2235C>G
NG_009029.2:g.7831C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*502C>G	ENSP00000509954.1:n.*502C>G
ENST00000378842.8:c.914C>G MANE Select	ENSP00000368119.4:p.Thr305Arg
ENST00000378842.7:c.914C>G	ENSP00000368119.3:p.Thr305Arg
ENST00000450095.6:c.587C>G	ENSP00000401956.2:p.Thr196Arg
ENST00000488412.2:n.498C>G
ENST00000489643.6:n.1322C>G
ENST00000554550.5:c.*534C>G	ENSP00000451435.1:n.*534C>G
ENST00000554638.5:n.1386C>G
ENST00000555020.5:n.1703C>G
ENST00000555754.1:n.362C>G
ENST00000556278.1:c.432+963C>G	ENSP00000451792.1:n.432+963C>G
ENST00000557706.5:n.1489C>G
NM_000155.3:c.914C>G	NP_000146.2:p.Thr305Arg
NM_001258332.1:c.587C>G	NP_001245261.1:p.Thr196Arg
NM_000155.4:c.914C>G MANE Select	NP_000146.2:p.Thr305Arg
NM_001258332.2:c.587C>G	NP_001245261.1:p.Thr196Arg