Canonical Allele Identifier: CA1845641055
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649419C= , CM000671.2:g.34649419C= GRCh38
NC_000009.11:g.34649416C= , CM000671.1:g.34649416C= GRCh37
NC_000009.10:g.34639416C= NCBI36
NG_009029.1:g.7782C=
NG_028966.1:g.2235C=
NG_009029.2:g.7831C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*502C= ENSP00000509954.1:n.*502C=
ENST00000378842.8:c.914C= MANE Select ENSP00000368119.4:p.Thr305=
ENST00000378842.7:c.914C= ENSP00000368119.3:p.Thr305=
ENST00000450095.6:c.587C= ENSP00000401956.2:p.Thr196=
ENST00000488412.2:n.498C=
ENST00000489643.6:n.1322C=
ENST00000554550.5:c.*534C= ENSP00000451435.1:n.*534C=
ENST00000554638.5:n.1386C=
ENST00000555020.5:n.1703C=
ENST00000555754.1:n.362C=
ENST00000556278.1:c.432+963C= ENSP00000451792.1:n.432+963C=
ENST00000557706.5:n.1489C=
NM_000155.3:c.914C= NP_000146.2:p.Thr305=
NM_001258332.1:c.587C= NP_001245261.1:p.Thr196=
NM_000155.4:c.914C= MANE Select NP_000146.2:p.Thr305=
NM_001258332.2:c.587C= NP_001245261.1:p.Thr196=