Canonical Allele Identifier: CA1845639975
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648875G= , CM000671.2:g.34648875G= GRCh38
NC_000009.11:g.34648872G= , CM000671.1:g.34648872G= GRCh37
NC_000009.10:g.34638872G= NCBI36
NG_009029.1:g.7238G=
NG_028966.1:g.1691G=
NG_009029.2:g.7287G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*389G= ENSP00000509954.1:n.*389G=
ENST00000378842.8:c.801G= MANE Select ENSP00000368119.4:p.Leu267=
ENST00000378842.7:c.801G= ENSP00000368119.3:p.Leu267=
ENST00000450095.6:c.474G= ENSP00000401956.2:p.Leu158=
ENST00000473506.6:c.*389G= ENSP00000432839.2:n.*389G=
ENST00000489643.6:n.881G=
ENST00000554085.5:c.*545G= ENSP00000450419.1:n.*545G=
ENST00000554550.5:c.*421G= ENSP00000451435.1:n.*421G=
ENST00000554638.5:n.1273G=
ENST00000555020.5:n.1262G=
ENST00000555086.5:n.805G=
ENST00000555754.1:n.146G=
ENST00000556244.1:c.788G=
ENST00000556278.1:c.432+419G= ENSP00000451792.1:n.432+419G=
ENST00000557706.5:n.1363G=
NM_000155.3:c.801G= NP_000146.2:p.Leu267=
NM_001258332.1:c.474G= NP_001245261.1:p.Leu158=
NM_000155.4:c.801G= MANE Select NP_000146.2:p.Leu267=
NM_001258332.2:c.474G= NP_001245261.1:p.Leu158=