Canonical Allele Identifier: CA2689809275
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648645del , CM000671.2:g.34648645del GRCh38
NC_000009.11:g.34648642del , CM000671.1:g.34648642del GRCh37
NC_000009.10:g.34638642del NCBI36
NG_009029.1:g.7008del
NG_028966.1:g.1461del
NG_009029.2:g.7057del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*276-117del ENSP00000509954.1:n.*276-117del
ENST00000378842.8:c.688-117del MANE Select ENSP00000368119.4:n.688-117del
ENST00000378842.7:c.688-117del ENSP00000368119.3:n.688-117del
ENST00000450095.6:c.361-117del ENSP00000401956.2:n.361-117del
ENST00000473506.6:c.*276-117del ENSP00000432839.2:n.*276-117del
ENST00000473529.5:n.847-117del
ENST00000487381.5:n.1261del
ENST00000489643.6:n.651del
ENST00000554085.5:c.*432-117del ENSP00000450419.1:n.*432-117del
ENST00000554550.5:c.*308-117del ENSP00000451435.1:n.*308-117del
ENST00000554638.5:n.1160-117del
ENST00000555020.5:n.1032del
ENST00000555086.5:n.692-117del
ENST00000555754.1:n.33-117del
ENST00000556244.1:c.675-117del
ENST00000556278.1:c.432+189del ENSP00000451792.1:n.432+189del
ENST00000557706.5:n.1250-117del
NM_000155.3:c.688-117del NP_000146.2:n.688-117del
NM_001258332.1:c.361-117del NP_001245261.1:n.361-117del
NM_000155.4:c.688-117del MANE Select NP_000146.2:n.688-117del
NM_001258332.2:c.361-117del NP_001245261.1:n.361-117del