Canonical Allele Identifier: CA373281836

Gene: GALT

Linked Data

• ClinVar Variation Id: 550862
• ClinVar RCV Id: RCV000665734
• dbSNP Id: rs794727838
• MyVariant Identifiers: chr9:g.34648338C>A (hg19) ; chr9:g.34648341C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648341C>A , CM000671.2:g.34648341C>A	GRCh38
NC_000009.11:g.34648338C>A , CM000671.1:g.34648338C>A	GRCh37
NC_000009.10:g.34638338C>A	NCBI36
NG_009029.1:g.6704C>A
NG_028966.1:g.1157C>A
NG_009029.2:g.6753C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*160C>A	ENSP00000509954.1:n.*160C>A
ENST00000378842.8:c.572C>A MANE Select	ENSP00000368119.4:p.Ala191Asp
ENST00000378842.7:c.572C>A	ENSP00000368119.3:p.Ala191Asp
ENST00000450095.6:c.245C>A	ENSP00000401956.2:p.Ala82Asp
ENST00000472111.5:n.828C>A
ENST00000473506.6:c.*160C>A	ENSP00000432839.2:n.*160C>A
ENST00000473529.5:n.731C>A
ENST00000485531.1:n.1166C>A
ENST00000487381.5:n.957C>A
ENST00000489643.6:n.347C>A
ENST00000554085.5:c.*316C>A	ENSP00000450419.1:n.*316C>A
ENST00000554139.5:n.818C>A
ENST00000554550.5:c.*192C>A	ENSP00000451435.1:n.*192C>A
ENST00000554638.5:n.1044C>A
ENST00000554897.5:c.*259C>A	ENSP00000450942.1:n.*259C>A
ENST00000554944.5:n.921C>A
ENST00000555020.5:n.728C>A
ENST00000555086.5:n.576C>A
ENST00000555214.5:n.393C>A
ENST00000556244.1:c.559C>A
ENST00000556278.1:c.317C>A	ENSP00000451792.1:p.Ala106Asp
ENST00000556494.5:n.693C>A
ENST00000557706.5:n.1134C>A
NM_000155.3:c.572C>A	NP_000146.2:p.Ala191Asp
NM_001258332.1:c.245C>A	NP_001245261.1:p.Ala82Asp
NM_000155.4:c.572C>A MANE Select	NP_000146.2:p.Ala191Asp
NM_001258332.2:c.245C>A	NP_001245261.1:p.Ala82Asp