Canonical Allele Identifier: CA1845639559
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648766G= , CM000671.2:g.34648766G= GRCh38
NC_000009.11:g.34648763G= , CM000671.1:g.34648763G= GRCh37
NC_000009.10:g.34638763G= NCBI36
NG_009029.1:g.7129G=
NG_028966.1:g.1582G=
NG_009029.2:g.7178G=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*280G= ENSP00000509954.1:n.*280G=
ENST00000378842.8:c.692G= MANE Select ENSP00000368119.4:p.Arg231=
ENST00000378842.7:c.692G= ENSP00000368119.3:p.Arg231=
ENST00000450095.6:c.365G= ENSP00000401956.2:p.Arg122=
ENST00000473506.6:c.*280G= ENSP00000432839.2:n.*280G=
ENST00000473529.5:n.851G=
ENST00000487381.5:n.1382G=
ENST00000489643.6:n.772G=
ENST00000554085.5:c.*436G= ENSP00000450419.1:n.*436G=
ENST00000554550.5:c.*312G= ENSP00000451435.1:n.*312G=
ENST00000554638.5:n.1164G=
ENST00000555020.5:n.1153G=
ENST00000555086.5:n.696G=
ENST00000555754.1:n.37G=
ENST00000556244.1:c.679G=
ENST00000556278.1:c.432+310G= ENSP00000451792.1:n.432+310G=
ENST00000557706.5:n.1254G=
NM_000155.3:c.692G= NP_000146.2:p.Arg231=
NM_001258332.1:c.365G= NP_001245261.1:p.Arg122=
NM_000155.4:c.692G= MANE Select NP_000146.2:p.Arg231=
NM_001258332.2:c.365G= NP_001245261.1:p.Arg122=