Canonical Allele Identifier: CA373281673

Gene: GALT

Linked Data

• ClinVar Variation Id: 439749
• ClinVar RCV Id: RCV001857269
• dbSNP Id: rs111033725
• MyVariant Identifiers: chr9:g.34648160C>A (hg19) ; chr9:g.34648163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648163C>A , CM000671.2:g.34648163C>A	GRCh38
NC_000009.11:g.34648160C>A , CM000671.1:g.34648160C>A	GRCh37
NC_000009.10:g.34638160C>A	NCBI36
NG_009029.1:g.6526C>A
NG_028966.1:g.979C>A
NG_009029.2:g.6575C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*144C>A	ENSP00000509954.1:n.*144C>A
ENST00000378842.8:c.556C>A MANE Select	ENSP00000368119.4:p.His186Asn
ENST00000378842.7:c.556C>A	ENSP00000368119.3:p.His186Asn
ENST00000450095.6:c.229C>A	ENSP00000401956.2:p.His77Asn
ENST00000465543.6:n.895C>A
ENST00000472111.5:n.812C>A
ENST00000473506.6:c.*144C>A	ENSP00000432839.2:n.*144C>A
ENST00000473529.5:n.715C>A
ENST00000485531.1:n.1150C>A
ENST00000487381.5:n.941C>A
ENST00000489643.6:n.331C>A
ENST00000554085.5:c.*300C>A	ENSP00000450419.1:n.*300C>A
ENST00000554139.5:n.802C>A
ENST00000554550.5:c.*176C>A	ENSP00000451435.1:n.*176C>A
ENST00000554638.5:n.1028C>A
ENST00000554897.5:c.*243C>A	ENSP00000450942.1:n.*243C>A
ENST00000554944.5:n.905C>A
ENST00000555020.5:n.712C>A
ENST00000555086.5:n.560C>A
ENST00000555214.5:n.377C>A
ENST00000556244.1:c.543C>A
ENST00000556278.1:c.301C>A	ENSP00000451792.1:p.His101Asn
ENST00000556494.5:n.677C>A
ENST00000557706.5:n.1118C>A
NM_000155.3:c.556C>A	NP_000146.2:p.His186Asn
NM_001258332.1:c.229C>A	NP_001245261.1:p.His77Asn
NM_000155.4:c.556C>A MANE Select	NP_000146.2:p.His186Asn
NM_001258332.2:c.229C>A	NP_001245261.1:p.His77Asn