Canonical Allele Identifier: CA373284818

Gene: GALT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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