Canonical Allele Identifier: CA1845641475
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649501C= , CM000671.2:g.34649501C= GRCh38
NC_000009.11:g.34649498C= , CM000671.1:g.34649498C= GRCh37
NC_000009.10:g.34639498C= NCBI36
NG_009029.1:g.7864C=
NG_028966.1:g.2317C=
NG_009029.2:g.7913C=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*584C= ENSP00000509954.1:n.*584C=
ENST00000378842.8:c.996C= MANE Select ENSP00000368119.4:p.Val332=
ENST00000378842.7:c.996C= ENSP00000368119.3:p.Val332=
ENST00000450095.6:c.669C= ENSP00000401956.2:p.Val223=
ENST00000488412.2:n.580C=
ENST00000489643.6:n.1404C=
ENST00000554550.5:c.*616C= ENSP00000451435.1:n.*616C=
ENST00000554638.5:n.1468C=
ENST00000555020.5:n.1785C=
ENST00000555754.1:n.444C=
ENST00000556278.1:c.432+1045C= ENSP00000451792.1:n.432+1045C=
ENST00000557706.5:n.1571C=
NM_000155.3:c.996C= NP_000146.2:p.Val332=
NM_001258332.1:c.669C= NP_001245261.1:p.Val223=
NM_000155.4:c.996C= MANE Select NP_000146.2:p.Val332=
NM_001258332.2:c.669C= NP_001245261.1:p.Val223=