Canonical Allele Identifier: CA1845641032
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649413C= , CM000671.2:g.34649413C= GRCh38
NC_000009.11:g.34649410C= , CM000671.1:g.34649410C= GRCh37
NC_000009.10:g.34639410C= NCBI36
NG_009029.1:g.7776C=
NG_028966.1:g.2229C=
NG_009029.2:g.7825C=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*496C= ENSP00000509954.1:n.*496C=
ENST00000378842.8:c.908C= MANE Select ENSP00000368119.4:p.Ala303=
ENST00000378842.7:c.908C= ENSP00000368119.3:p.Ala303=
ENST00000450095.6:c.581C= ENSP00000401956.2:p.Ala194=
ENST00000488412.2:n.492C=
ENST00000489643.6:n.1316C=
ENST00000554550.5:c.*528C= ENSP00000451435.1:n.*528C=
ENST00000554638.5:n.1380C=
ENST00000555020.5:n.1697C=
ENST00000555754.1:n.356C=
ENST00000556278.1:c.432+957C= ENSP00000451792.1:n.432+957C=
ENST00000557706.5:n.1483C=
NM_000155.3:c.908C= NP_000146.2:p.Ala303=
NM_001258332.1:c.581C= NP_001245261.1:p.Ala194=
NM_000155.4:c.908C= MANE Select NP_000146.2:p.Ala303=
NM_001258332.2:c.581C= NP_001245261.1:p.Ala194=