Canonical Allele Identifier: CA192669483

Gene: GALT

Linked Data

• dbSNP Id: rs35186373

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647519dup , CM000671.2:g.34647519dup	GRCh38
NC_000009.11:g.34647516dup , CM000671.1:g.34647516dup	GRCh37
NC_000009.10:g.34637516dup	NCBI36
NG_009029.1:g.5882dup
NG_028966.1:g.335dup
NG_009029.2:g.5931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.280dup	ENSP00000509954.1:p.Leu94ProfsTer3
ENST00000378842.8:c.280dup MANE Select	ENSP00000368119.4:p.Leu94ProfsTer3
ENST00000378842.7:c.280dup	ENSP00000368119.3:p.Leu94ProfsTer3
ENST00000450095.6:c.50+261dup	ENSP00000401956.2:n.50+261dup
ENST00000465543.6:n.619dup
ENST00000472111.5:n.321dup
ENST00000473506.6:c.253-22dup	ENSP00000432839.2:n.253-22dup
ENST00000473529.5:n.327dup
ENST00000485531.1:n.506dup
ENST00000487381.5:n.539dup
ENST00000489643.6:n.282+261dup
ENST00000554085.5:c.*24dup	ENSP00000450419.1:n.*24dup
ENST00000554139.5:n.333dup
ENST00000554330.5:n.250-22dup
ENST00000554550.5:c.252+261dup	ENSP00000451435.1:n.252+261dup
ENST00000554638.5:n.537dup
ENST00000554897.5:c.252+261dup	ENSP00000450942.1:n.252+261dup
ENST00000554944.5:n.283-22dup
ENST00000555020.5:n.310dup
ENST00000555086.5:n.284dup
ENST00000555214.5:n.261+261dup
ENST00000556157.1:n.404dup
ENST00000556244.1:c.267dup
ENST00000556278.1:c.252+261dup	ENSP00000451792.1:n.252+261dup
ENST00000556403.5:n.293dup
ENST00000556494.5:n.312dup
ENST00000557541.5:n.446-22dup
ENST00000557706.5:n.627dup
NM_000155.3:c.280dup	NP_000146.2:p.Leu94ProfsTer3
NM_001258332.1:c.50+261dup	NP_001245261.1:n.50+261dup
NM_000155.4:c.280dup MANE Select	NP_000146.2:p.Leu94ProfsTer3
NM_001258332.2:c.50+261dup	NP_001245261.1:n.50+261dup