Canonical Allele Identifier: CA464595858
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34647694A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647697A>C , CM000671.2:g.34647697A>C GRCh38
NC_000009.11:g.34647694A>C , CM000671.1:g.34647694A>C GRCh37
NC_000009.10:g.34637694A>C NCBI36
NG_009029.1:g.6060A>C
NG_028966.1:g.513A>C
NG_009029.2:g.6109A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+130A>C ENSP00000509954.1:n.328+130A>C
ENST00000378842.8:c.369A>C MANE Select ENSP00000368119.4:p.Arg123=
ENST00000378842.7:c.369A>C ENSP00000368119.3:p.Arg123=
ENST00000450095.6:c.51-135A>C ENSP00000401956.2:n.51-135A>C
ENST00000465543.6:n.708A>C
ENST00000472111.5:n.499A>C
ENST00000473506.6:c.320A>C ENSP00000432839.2:p.Glu107Ala
ENST00000473529.5:n.505A>C
ENST00000485531.1:n.684A>C
ENST00000487381.5:n.628A>C
ENST00000489643.6:n.283-418A>C
ENST00000554085.5:c.*113A>C ENSP00000450419.1:n.*113A>C
ENST00000554139.5:n.422A>C
ENST00000554330.5:n.406A>C
ENST00000554550.5:c.253-135A>C ENSP00000451435.1:n.253-135A>C
ENST00000554638.5:n.715A>C
ENST00000554897.5:c.253-135A>C ENSP00000450942.1:n.253-135A>C
ENST00000554944.5:n.439A>C
ENST00000555020.5:n.399A>C
ENST00000555086.5:n.373A>C
ENST00000555214.5:n.262-351A>C
ENST00000556157.1:n.493A>C
ENST00000556244.1:c.356A>C
ENST00000556278.1:c.253-418A>C ENSP00000451792.1:n.253-418A>C
ENST00000556403.5:n.471A>C
ENST00000556494.5:n.490A>C
ENST00000557541.5:n.513A>C
ENST00000557706.5:n.805A>C
NM_000155.3:c.369A>C NP_000146.2:p.Arg123=
NM_001258332.1:c.51-135A>C NP_001245261.1:n.51-135A>C
NM_000155.4:c.369A>C MANE Select NP_000146.2:p.Arg123=
NM_001258332.2:c.51-135A>C NP_001245261.1:n.51-135A>C