Canonical Allele Identifier: CA259366
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033676

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647662dup , CM000671.2:g.34647662dup GRCh38
NC_000009.11:g.34647659dup , CM000671.1:g.34647659dup GRCh37
NC_000009.10:g.34637659dup NCBI36
NG_009029.1:g.6025dup
NG_028966.1:g.478dup
NG_009029.2:g.6074dup

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+95dup ENSP00000509954.1:n.328+95dup
ENST00000378842.8:c.334dup MANE Select ENSP00000368119.4:p.Ser112LysfsTer2
ENST00000378842.7:c.334dup ENSP00000368119.3:p.Ser112LysfsTer2
ENST00000450095.6:c.51-170dup ENSP00000401956.2:n.51-170dup
ENST00000465543.6:n.673dup
ENST00000472111.5:n.464dup
ENST00000473506.6:c.285dup ENSP00000432839.2:p.Val96SerfsTer?
ENST00000473529.5:n.470dup
ENST00000485531.1:n.649dup
ENST00000487381.5:n.593dup
ENST00000489643.6:n.282+404dup
ENST00000554085.5:c.*78dup ENSP00000450419.1:n.*78dup
ENST00000554139.5:n.387dup
ENST00000554330.5:n.371dup
ENST00000554550.5:c.253-170dup ENSP00000451435.1:n.253-170dup
ENST00000554638.5:n.680dup
ENST00000554897.5:c.253-170dup ENSP00000450942.1:n.253-170dup
ENST00000554944.5:n.404dup
ENST00000555020.5:n.364dup
ENST00000555086.5:n.338dup
ENST00000555214.5:n.262-386dup
ENST00000556157.1:n.458dup
ENST00000556244.1:c.321dup
ENST00000556278.1:c.252+404dup ENSP00000451792.1:n.252+404dup
ENST00000556403.5:n.436dup
ENST00000556494.5:n.455dup
ENST00000557541.5:n.478dup
ENST00000557706.5:n.770dup
NM_000155.3:c.334dup NP_000146.2:p.Ser112LysfsTer2
NM_001258332.1:c.51-170dup NP_001245261.1:n.51-170dup
NM_000155.4:c.334dup MANE Select NP_000146.2:p.Ser112LysfsTer2
NM_001258332.2:c.51-170dup NP_001245261.1:n.51-170dup