Canonical Allele Identifier: CA1845639652
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648808T= , CM000671.2:g.34648808T= GRCh38
NC_000009.11:g.34648805T= , CM000671.1:g.34648805T= GRCh37
NC_000009.10:g.34638805T= NCBI36
NG_009029.1:g.7171T=
NG_028966.1:g.1624T=
NG_009029.2:g.7220T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*322T= ENSP00000509954.1:n.*322T=
ENST00000378842.8:c.734T= MANE Select ENSP00000368119.4:p.Phe245=
ENST00000378842.7:c.734T= ENSP00000368119.3:p.Phe245=
ENST00000450095.6:c.407T= ENSP00000401956.2:p.Phe136=
ENST00000473506.6:c.*322T= ENSP00000432839.2:n.*322T=
ENST00000473529.5:n.893T=
ENST00000487381.5:n.1424T=
ENST00000489643.6:n.814T=
ENST00000554085.5:c.*478T= ENSP00000450419.1:n.*478T=
ENST00000554550.5:c.*354T= ENSP00000451435.1:n.*354T=
ENST00000554638.5:n.1206T=
ENST00000555020.5:n.1195T=
ENST00000555086.5:n.738T=
ENST00000555754.1:n.79T=
ENST00000556244.1:c.721T=
ENST00000556278.1:c.432+352T= ENSP00000451792.1:n.432+352T=
ENST00000557706.5:n.1296T=
NM_000155.3:c.734T= NP_000146.2:p.Phe245=
NM_001258332.1:c.407T= NP_001245261.1:p.Phe136=
NM_000155.4:c.734T= MANE Select NP_000146.2:p.Phe245=
NM_001258332.2:c.407T= NP_001245261.1:p.Phe136=