Canonical Allele Identifier: CA1845639744
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648832C= , CM000671.2:g.34648832C= GRCh38
NC_000009.11:g.34648829C= , CM000671.1:g.34648829C= GRCh37
NC_000009.10:g.34638829C= NCBI36
NG_009029.1:g.7195C=
NG_028966.1:g.1648C=
NG_009029.2:g.7244C=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*346C= ENSP00000509954.1:n.*346C=
ENST00000378842.8:c.758C= MANE Select ENSP00000368119.4:p.Thr253=
ENST00000378842.7:c.758C= ENSP00000368119.3:p.Thr253=
ENST00000450095.6:c.431C= ENSP00000401956.2:p.Thr144=
ENST00000473506.6:c.*346C= ENSP00000432839.2:n.*346C=
ENST00000489643.6:n.838C=
ENST00000554085.5:c.*502C= ENSP00000450419.1:n.*502C=
ENST00000554550.5:c.*378C= ENSP00000451435.1:n.*378C=
ENST00000554638.5:n.1230C=
ENST00000555020.5:n.1219C=
ENST00000555086.5:n.762C=
ENST00000555754.1:n.103C=
ENST00000556244.1:c.745C=
ENST00000556278.1:c.432+376C= ENSP00000451792.1:n.432+376C=
ENST00000557706.5:n.1320C=
NM_000155.3:c.758C= NP_000146.2:p.Thr253=
NM_001258332.1:c.431C= NP_001245261.1:p.Thr144=
NM_000155.4:c.758C= MANE Select NP_000146.2:p.Thr253=
NM_001258332.2:c.431C= NP_001245261.1:p.Thr144=