Canonical Allele Identifier: CA1845640625
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649077G= , CM000671.2:g.34649077G= GRCh38
NC_000009.11:g.34649074G= , CM000671.1:g.34649074G= GRCh37
NC_000009.10:g.34639074G= NCBI36
NG_009029.1:g.7440G=
NG_028966.1:g.1893G=
NG_009029.2:g.7489G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*488G= ENSP00000509954.1:n.*488G=
ENST00000378842.8:c.900G= MANE Select ENSP00000368119.4:p.Trp300=
ENST00000378842.7:c.900G= ENSP00000368119.3:p.Trp300=
ENST00000450095.6:c.573G= ENSP00000401956.2:p.Trp191=
ENST00000488412.2:n.156G=
ENST00000489643.6:n.980G=
ENST00000554550.5:c.*520G= ENSP00000451435.1:n.*520G=
ENST00000554638.5:n.1372G=
ENST00000555020.5:n.1361G=
ENST00000555086.5:n.1007G=
ENST00000555754.1:n.348G=
ENST00000556278.1:c.432+621G= ENSP00000451792.1:n.432+621G=
ENST00000557706.5:n.1475G=
NM_000155.3:c.900G= NP_000146.2:p.Trp300=
NM_001258332.1:c.573G= NP_001245261.1:p.Trp191=
NM_000155.4:c.900G= MANE Select NP_000146.2:p.Trp300=
NM_001258332.2:c.573G= NP_001245261.1:p.Trp191=