Canonical Allele Identifier: CA1845639644
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648794A= , CM000671.2:g.34648794A= GRCh38
NC_000009.11:g.34648791A= , CM000671.1:g.34648791A= GRCh37
NC_000009.10:g.34638791A= NCBI36
NG_009029.1:g.7157A=
NG_028966.1:g.1610A=
NG_009029.2:g.7206A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*308A= ENSP00000509954.1:n.*308A=
ENST00000378842.8:c.720A= MANE Select ENSP00000368119.4:p.Leu240=
ENST00000378842.7:c.720A= ENSP00000368119.3:p.Leu240=
ENST00000450095.6:c.393A= ENSP00000401956.2:p.Leu131=
ENST00000473506.6:c.*308A= ENSP00000432839.2:n.*308A=
ENST00000473529.5:n.879A=
ENST00000487381.5:n.1410A=
ENST00000489643.6:n.800A=
ENST00000554085.5:c.*464A= ENSP00000450419.1:n.*464A=
ENST00000554550.5:c.*340A= ENSP00000451435.1:n.*340A=
ENST00000554638.5:n.1192A=
ENST00000555020.5:n.1181A=
ENST00000555086.5:n.724A=
ENST00000555754.1:n.65A=
ENST00000556244.1:c.707A=
ENST00000556278.1:c.432+338A= ENSP00000451792.1:n.432+338A=
ENST00000557706.5:n.1282A=
NM_000155.3:c.720A= NP_000146.2:p.Leu240=
NM_001258332.1:c.393A= NP_001245261.1:p.Leu131=
NM_000155.4:c.720A= MANE Select NP_000146.2:p.Leu240=
NM_001258332.2:c.393A= NP_001245261.1:p.Leu131=