Canonical Allele Identifier: CA863497209
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1205385669

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649328del , CM000671.2:g.34649328del GRCh38
NC_000009.11:g.34649325del , CM000671.1:g.34649325del GRCh37
NC_000009.10:g.34639325del NCBI36
NG_009029.1:g.7691del
NG_028966.1:g.2144del
NG_009029.2:g.7740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*493-82del ENSP00000509954.1:n.*493-82del
ENST00000378842.8:c.905-82del MANE Select ENSP00000368119.4:n.905-82del
ENST00000378842.7:c.905-82del ENSP00000368119.3:n.905-82del
ENST00000450095.6:c.578-82del ENSP00000401956.2:n.578-82del
ENST00000488412.2:n.407del
ENST00000489643.6:n.1231del
ENST00000554550.5:c.*525-82del ENSP00000451435.1:n.*525-82del
ENST00000554638.5:n.1377-82del
ENST00000555020.5:n.1612del
ENST00000555754.1:n.353-82del
ENST00000556278.1:c.432+872del ENSP00000451792.1:n.432+872del
ENST00000557706.5:n.1480-82del
NM_000155.3:c.905-82del NP_000146.2:n.905-82del
NM_001258332.1:c.578-82del NP_001245261.1:n.578-82del
NM_000155.4:c.905-82del MANE Select NP_000146.2:n.905-82del
NM_001258332.2:c.578-82del NP_001245261.1:n.578-82del