Canonical Allele Identifier: CA373284821

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649447T>G (hg19) ; chr9:g.34649450T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649450T>G , CM000671.2:g.34649450T>G	GRCh38
NC_000009.11:g.34649447T>G , CM000671.1:g.34649447T>G	GRCh37
NC_000009.10:g.34639447T>G	NCBI36
NG_009029.1:g.7813T>G
NG_028966.1:g.2266T>G
NG_009029.2:g.7862T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*533T>G	ENSP00000509954.1:n.*533T>G
ENST00000378842.8:c.945T>G MANE Select	ENSP00000368119.4:p.His315Gln
ENST00000378842.7:c.945T>G	ENSP00000368119.3:p.His315Gln
ENST00000450095.6:c.618T>G	ENSP00000401956.2:p.His206Gln
ENST00000488412.2:n.529T>G
ENST00000489643.6:n.1353T>G
ENST00000554550.5:c.*565T>G	ENSP00000451435.1:n.*565T>G
ENST00000554638.5:n.1417T>G
ENST00000555020.5:n.1734T>G
ENST00000555754.1:n.393T>G
ENST00000556278.1:c.432+994T>G	ENSP00000451792.1:n.432+994T>G
ENST00000557706.5:n.1520T>G
NM_000155.3:c.945T>G	NP_000146.2:p.His315Gln
NM_001258332.1:c.618T>G	NP_001245261.1:p.His206Gln
NM_000155.4:c.945T>G MANE Select	NP_000146.2:p.His315Gln
NM_001258332.2:c.618T>G	NP_001245261.1:p.His206Gln