Canonical Allele Identifier: CA2580080372

Gene: GALT

Linked Data

• ClinVar Variation Id: 1332995
• ClinVar RCV Id: RCV002264827
• dbSNP Id: rs2132341744

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647206del , CM000671.2:g.34647206del	GRCh38
NC_000009.11:g.34647203del , CM000671.1:g.34647203del	GRCh37
NC_000009.10:g.34637203del	NCBI36
NG_009029.1:g.5569del
NG_028966.1:g.22del
NG_009029.2:g.5618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.200del	ENSP00000509954.1:p.Arg67ProfsTer19
ENST00000378842.8:c.200del MANE Select	ENSP00000368119.4:p.Arg67ProfsTer19
ENST00000378842.7:c.200del	ENSP00000368119.3:p.Arg67ProfsTer19
ENST00000450095.6:c.-3del	ENSP00000401956.2:n.-3del
ENST00000465543.6:n.539del
ENST00000468099.2:n.240del
ENST00000472111.5:n.241del
ENST00000473506.6:c.200del	ENSP00000432839.2:p.Arg67ProfsTer22
ENST00000473529.5:n.247del
ENST00000485531.1:n.193del
ENST00000487381.5:n.226del
ENST00000489643.6:n.230del
ENST00000554085.5:c.200del	ENSP00000450419.1:p.Arg67ProfsTer30
ENST00000554139.5:n.253del
ENST00000554330.5:n.197del
ENST00000554550.5:c.200del	ENSP00000451435.1:p.Arg67ProfsTer?
ENST00000554638.5:n.224del
ENST00000554897.5:c.200del	ENSP00000450942.1:p.Arg67ProfsTer?
ENST00000554944.5:n.230del
ENST00000555020.5:n.230del
ENST00000555086.5:n.204del
ENST00000555214.5:n.209del
ENST00000556157.1:n.307del
ENST00000556244.1:c.84del
ENST00000556278.1:c.200del	ENSP00000451792.1:p.Arg67ProfsTer26
ENST00000556403.5:n.213del
ENST00000556494.5:n.232del
ENST00000557541.5:n.393del
ENST00000557706.5:n.314del
NM_000155.3:c.200del	NP_000146.2:p.Arg67ProfsTer19
NM_001258332.1:c.-3del	NP_001245261.1:n.-3del
NM_000155.4:c.200del MANE Select	NP_000146.2:p.Arg67ProfsTer19
NM_001258332.2:c.-3del	NP_001245261.1:n.-3del