Canonical Allele Identifier: CA373281576

Gene: GALT

Linked Data

• ClinVar Variation Id: 859409
• ClinVar RCV Id: RCV001065514
• dbSNP Id: rs367543259
• MyVariant Identifiers: chr9:g.34648146C>A (hg19) ; chr9:g.34648149C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648149C>A , CM000671.2:g.34648149C>A	GRCh38
NC_000009.11:g.34648146C>A , CM000671.1:g.34648146C>A	GRCh37
NC_000009.10:g.34638146C>A	NCBI36
NG_009029.1:g.6512C>A
NG_028966.1:g.965C>A
NG_009029.2:g.6561C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*130C>A	ENSP00000509954.1:n.*130C>A
ENST00000378842.8:c.542C>A MANE Select	ENSP00000368119.4:p.Ser181Tyr
ENST00000378842.7:c.542C>A	ENSP00000368119.3:p.Ser181Tyr
ENST00000450095.6:c.215C>A	ENSP00000401956.2:p.Ser72Tyr
ENST00000465543.6:n.881C>A
ENST00000472111.5:n.798C>A
ENST00000473506.6:c.*130C>A	ENSP00000432839.2:n.*130C>A
ENST00000473529.5:n.701C>A
ENST00000485531.1:n.1136C>A
ENST00000487381.5:n.927C>A
ENST00000489643.6:n.317C>A
ENST00000554085.5:c.*286C>A	ENSP00000450419.1:n.*286C>A
ENST00000554139.5:n.788C>A
ENST00000554550.5:c.*162C>A	ENSP00000451435.1:n.*162C>A
ENST00000554638.5:n.1014C>A
ENST00000554897.5:c.*229C>A	ENSP00000450942.1:n.*229C>A
ENST00000554944.5:n.891C>A
ENST00000555020.5:n.698C>A
ENST00000555086.5:n.546C>A
ENST00000555214.5:n.363C>A
ENST00000556244.1:c.529C>A
ENST00000556278.1:c.287C>A	ENSP00000451792.1:p.Ser96Tyr
ENST00000556494.5:n.663C>A
ENST00000557706.5:n.1104C>A
NM_000155.3:c.542C>A	NP_000146.2:p.Ser181Tyr
NM_001258332.1:c.215C>A	NP_001245261.1:p.Ser72Tyr
NM_000155.4:c.542C>A MANE Select	NP_000146.2:p.Ser181Tyr
NM_001258332.2:c.215C>A	NP_001245261.1:p.Ser72Tyr