Canonical Allele Identifier: CA1845641177
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649454C= , CM000671.2:g.34649454C= GRCh38
NC_000009.11:g.34649451C= , CM000671.1:g.34649451C= GRCh37
NC_000009.10:g.34639451C= NCBI36
NG_009029.1:g.7817C=
NG_028966.1:g.2270C=
NG_009029.2:g.7866C=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*537C= ENSP00000509954.1:n.*537C=
ENST00000378842.8:c.949C= MANE Select ENSP00000368119.4:p.Gln317=
ENST00000378842.7:c.949C= ENSP00000368119.3:p.Gln317=
ENST00000450095.6:c.622C= ENSP00000401956.2:p.Gln208=
ENST00000488412.2:n.533C=
ENST00000489643.6:n.1357C=
ENST00000554550.5:c.*569C= ENSP00000451435.1:n.*569C=
ENST00000554638.5:n.1421C=
ENST00000555020.5:n.1738C=
ENST00000555754.1:n.397C=
ENST00000556278.1:c.432+998C= ENSP00000451792.1:n.432+998C=
ENST00000557706.5:n.1524C=
NM_000155.3:c.949C= NP_000146.2:p.Gln317=
NM_001258332.1:c.622C= NP_001245261.1:p.Gln208=
NM_000155.4:c.949C= MANE Select NP_000146.2:p.Gln317=
NM_001258332.2:c.622C= NP_001245261.1:p.Gln208=