Canonical Allele Identifier: CA2689809078
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648489del , CM000671.2:g.34648489del GRCh38
NC_000009.11:g.34648486del , CM000671.1:g.34648486del GRCh37
NC_000009.10:g.34638486del NCBI36
NG_009029.1:g.6852del
NG_028966.1:g.1305del
NG_009029.2:g.6901del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*275+33del ENSP00000509954.1:n.*275+33del
ENST00000378842.8:c.687+33del MANE Select ENSP00000368119.4:n.687+33del
ENST00000378842.7:c.687+33del ENSP00000368119.3:n.687+33del
ENST00000450095.6:c.360+33del ENSP00000401956.2:n.360+33del
ENST00000473506.6:c.*275+33del ENSP00000432839.2:n.*275+33del
ENST00000473529.5:n.846+33del
ENST00000487381.5:n.1105del
ENST00000489643.6:n.495del
ENST00000554085.5:c.*431+33del ENSP00000450419.1:n.*431+33del
ENST00000554550.5:c.*307+33del ENSP00000451435.1:n.*307+33del
ENST00000554638.5:n.1159+33del
ENST00000555020.5:n.876del
ENST00000555086.5:n.691+33del
ENST00000555214.5:n.541del
ENST00000555754.1:n.32+33del
ENST00000556244.1:c.674+33del
ENST00000556278.1:c.432+33del ENSP00000451792.1:n.432+33del
ENST00000556494.5:n.841del
ENST00000557706.5:n.1249+33del
NM_000155.3:c.687+33del NP_000146.2:n.687+33del
NM_001258332.1:c.360+33del NP_001245261.1:n.360+33del
NM_000155.4:c.687+33del MANE Select NP_000146.2:n.687+33del
NM_001258332.2:c.360+33del NP_001245261.1:n.360+33del