Canonical Allele Identifier: CA464404344
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34649492C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649495C>A , CM000671.2:g.34649495C>A GRCh38
NC_000009.11:g.34649492C>A , CM000671.1:g.34649492C>A GRCh37
NC_000009.10:g.34639492C>A NCBI36
NG_009029.1:g.7858C>A
NG_028966.1:g.2311C>A
NG_009029.2:g.7907C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*578C>A ENSP00000509954.1:n.*578C>A
ENST00000378842.8:c.990C>A MANE Select ENSP00000368119.4:p.Ala330=
ENST00000378842.7:c.990C>A ENSP00000368119.3:p.Ala330=
ENST00000450095.6:c.663C>A ENSP00000401956.2:p.Ala221=
ENST00000488412.2:n.574C>A
ENST00000489643.6:n.1398C>A
ENST00000554550.5:c.*610C>A ENSP00000451435.1:n.*610C>A
ENST00000554638.5:n.1462C>A
ENST00000555020.5:n.1779C>A
ENST00000555754.1:n.438C>A
ENST00000556278.1:c.432+1039C>A ENSP00000451792.1:n.432+1039C>A
ENST00000557706.5:n.1565C>A
NM_000155.3:c.990C>A NP_000146.2:p.Ala330=
NM_001258332.1:c.663C>A NP_001245261.1:p.Ala221=
NM_000155.4:c.990C>A MANE Select NP_000146.2:p.Ala330=
NM_001258332.2:c.663C>A NP_001245261.1:p.Ala221=