Canonical Allele Identifier: CA2499219853

Gene: GALT

Linked Data

• ClinVar Variation Id: 1073718
• ClinVar RCV Id: RCV001386791
• dbSNP Id: rs2132345163

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648888del , CM000671.2:g.34648888del	GRCh38
NC_000009.11:g.34648885del , CM000671.1:g.34648885del	GRCh37
NC_000009.10:g.34638885del	NCBI36
NG_009029.1:g.7251del
NG_028966.1:g.1704del
NG_009029.2:g.7300del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*402del	ENSP00000509954.1:n.*402del
ENST00000378842.8:c.814del MANE Select	ENSP00000368119.4:p.Arg272ValfsTer4
ENST00000378842.7:c.814del	ENSP00000368119.3:p.Arg272ValfsTer4
ENST00000450095.6:c.487del	ENSP00000401956.2:p.Arg163ValfsTer4
ENST00000473506.6:c.*402del	ENSP00000432839.2:n.*402del
ENST00000489643.6:n.894del
ENST00000554085.5:c.*558del	ENSP00000450419.1:n.*558del
ENST00000554550.5:c.*434del	ENSP00000451435.1:n.*434del
ENST00000554638.5:n.1286del
ENST00000555020.5:n.1275del
ENST00000555086.5:n.818del
ENST00000555754.1:n.159del
ENST00000556244.1:c.801del
ENST00000556278.1:c.432+432del	ENSP00000451792.1:n.432+432del
ENST00000557706.5:n.1376del
NM_000155.3:c.814del	NP_000146.2:p.Arg272ValfsTer4
NM_001258332.1:c.487del	NP_001245261.1:p.Arg163ValfsTer4
NM_000155.4:c.814del MANE Select	NP_000146.2:p.Arg272ValfsTer4
NM_001258332.2:c.487del	NP_001245261.1:p.Arg163ValfsTer4