Canonical Allele Identifier: CA2573144594

Gene: GALT

Linked Data

• ClinVar Variation Id: 1684618
• ClinVar RCV Id: RCV002246213
• dbSNP Id: rs2132345023
• gnomAD v4: 9-34648842-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648846del , CM000671.2:g.34648846del	GRCh38
NC_000009.11:g.34648843del , CM000671.1:g.34648843del	GRCh37
NC_000009.10:g.34638843del	NCBI36
NG_028966.1:g.1662del
NG_009029.2:g.7258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*360del	ENSP00000509954.1:n.*360del
ENST00000378842.8:c.772del MANE Select	ENSP00000368119.4:p.Arg258ValfsTer10
ENST00000378842.7:c.772del	ENSP00000368119.3:p.Arg258ValfsTer10
ENST00000450095.6:c.445del	ENSP00000401956.2:p.Arg149ValfsTer10
ENST00000473506.6:c.*360del	ENSP00000432839.2:n.*360del
ENST00000489643.6:n.852del
ENST00000554085.5:c.*516del	ENSP00000450419.1:n.*516del
ENST00000554550.5:c.*392del	ENSP00000451435.1:n.*392del
ENST00000554638.5:n.1244del
ENST00000555020.5:n.1233del
ENST00000555086.5:n.776del
ENST00000555754.1:n.117del
ENST00000556244.1:c.759del
ENST00000556278.1:c.432+390del	ENSP00000451792.1:n.432+390del
ENST00000557706.5:n.1334del
NM_000155.3:c.772del	NP_000146.2:p.Arg258ValfsTer10
NM_001258332.1:c.445del	NP_001245261.1:p.Arg149ValfsTer10
NM_000155.4:c.772del MANE Select	NP_000146.2:p.Arg258ValfsTer10
NM_001258332.2:c.445del	NP_001245261.1:p.Arg149ValfsTer10