Canonical Allele Identifier: CA464402932
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34648779T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648782T>C , CM000671.2:g.34648782T>C GRCh38
NC_000009.11:g.34648779T>C , CM000671.1:g.34648779T>C GRCh37
NC_000009.10:g.34638779T>C NCBI36
NG_009029.1:g.7145T>C
NG_028966.1:g.1598T>C
NG_009029.2:g.7194T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*296T>C ENSP00000509954.1:n.*296T>C
ENST00000378842.8:c.708T>C MANE Select ENSP00000368119.4:p.Ser236=
ENST00000378842.7:c.708T>C ENSP00000368119.3:p.Ser236=
ENST00000450095.6:c.381T>C ENSP00000401956.2:p.Ser127=
ENST00000473506.6:c.*296T>C ENSP00000432839.2:n.*296T>C
ENST00000473529.5:n.867T>C
ENST00000487381.5:n.1398T>C
ENST00000489643.6:n.788T>C
ENST00000554085.5:c.*452T>C ENSP00000450419.1:n.*452T>C
ENST00000554550.5:c.*328T>C ENSP00000451435.1:n.*328T>C
ENST00000554638.5:n.1180T>C
ENST00000555020.5:n.1169T>C
ENST00000555086.5:n.712T>C
ENST00000555754.1:n.53T>C
ENST00000556244.1:c.695T>C
ENST00000556278.1:c.432+326T>C ENSP00000451792.1:n.432+326T>C
ENST00000557706.5:n.1270T>C
NM_000155.3:c.708T>C NP_000146.2:p.Ser236=
NM_001258332.1:c.381T>C NP_001245261.1:p.Ser127=
NM_000155.4:c.708T>C MANE Select NP_000146.2:p.Ser236=
NM_001258332.2:c.381T>C NP_001245261.1:p.Ser127=