Canonical Allele Identifier: CA464403594
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34649053C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649056C>A , CM000671.2:g.34649056C>A GRCh38
NC_000009.11:g.34649053C>A , CM000671.1:g.34649053C>A GRCh37
NC_000009.10:g.34639053C>A NCBI36
NG_009029.1:g.7419C>A
NG_028966.1:g.1872C>A
NG_009029.2:g.7468C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*467C>A ENSP00000509954.1:n.*467C>A
ENST00000378842.8:c.879C>A MANE Select ENSP00000368119.4:p.Ser293=
ENST00000378842.7:c.879C>A ENSP00000368119.3:p.Ser293=
ENST00000450095.6:c.552C>A ENSP00000401956.2:p.Ser184=
ENST00000488412.2:n.135C>A
ENST00000489643.6:n.959C>A
ENST00000554550.5:c.*499C>A ENSP00000451435.1:n.*499C>A
ENST00000554638.5:n.1351C>A
ENST00000555020.5:n.1340C>A
ENST00000555086.5:n.986C>A
ENST00000555754.1:n.327C>A
ENST00000556278.1:c.432+600C>A ENSP00000451792.1:n.432+600C>A
ENST00000557706.5:n.1454C>A
NM_000155.3:c.879C>A NP_000146.2:p.Ser293=
NM_001258332.1:c.552C>A NP_001245261.1:p.Ser184=
NM_000155.4:c.879C>A MANE Select NP_000146.2:p.Ser293=
NM_001258332.2:c.552C>A NP_001245261.1:p.Ser184=