Canonical Allele Identifier: CA373284500

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649067T>A (hg19) ; chr9:g.34649070T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649070T>A , CM000671.2:g.34649070T>A	GRCh38
NC_000009.11:g.34649067T>A , CM000671.1:g.34649067T>A	GRCh37
NC_000009.10:g.34639067T>A	NCBI36
NG_009029.1:g.7433T>A
NG_028966.1:g.1886T>A
NG_009029.2:g.7482T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*481T>A	ENSP00000509954.1:n.*481T>A
ENST00000378842.8:c.893T>A MANE Select	ENSP00000368119.4:p.Met298Lys
ENST00000378842.7:c.893T>A	ENSP00000368119.3:p.Met298Lys
ENST00000450095.6:c.566T>A	ENSP00000401956.2:p.Met189Lys
ENST00000488412.2:n.149T>A
ENST00000489643.6:n.973T>A
ENST00000554550.5:c.*513T>A	ENSP00000451435.1:n.*513T>A
ENST00000554638.5:n.1365T>A
ENST00000555020.5:n.1354T>A
ENST00000555086.5:n.1000T>A
ENST00000555754.1:n.341T>A
ENST00000556278.1:c.432+614T>A	ENSP00000451792.1:n.432+614T>A
ENST00000557706.5:n.1468T>A
NM_000155.3:c.893T>A	NP_000146.2:p.Met298Lys
NM_001258332.1:c.566T>A	NP_001245261.1:p.Met189Lys
NM_000155.4:c.893T>A MANE Select	NP_000146.2:p.Met298Lys
NM_001258332.2:c.566T>A	NP_001245261.1:p.Met189Lys