Canonical Allele Identifier: CA373278621
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647155A>T , CM000671.2:g.34647155A>T GRCh38
NC_000009.11:g.34647152A>T , CM000671.1:g.34647152A>T GRCh37
NC_000009.10:g.34637152A>T NCBI36
NG_009029.1:g.5518A>T
NG_009029.2:g.5567A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.149A>T ENSP00000509954.1:p.Lys50Met
ENST00000378842.8:c.149A>T MANE Select ENSP00000368119.4:p.Lys50Met
ENST00000378842.7:c.149A>T ENSP00000368119.3:p.Lys50Met
ENST00000450095.6:c.-54A>T ENSP00000401956.2:n.-54A>T
ENST00000465543.6:n.488A>T
ENST00000468099.2:n.189A>T
ENST00000472111.5:n.190A>T
ENST00000473506.6:c.149A>T ENSP00000432839.2:p.Lys50Met
ENST00000473529.5:n.196A>T
ENST00000485531.1:n.142A>T
ENST00000487381.5:n.175A>T
ENST00000489643.6:n.179A>T
ENST00000554085.5:c.149A>T ENSP00000450419.1:p.Lys50Met
ENST00000554139.5:n.202A>T
ENST00000554330.5:n.146A>T
ENST00000554550.5:c.149A>T ENSP00000451435.1:p.Lys50Met
ENST00000554638.5:n.173A>T
ENST00000554897.5:c.149A>T ENSP00000450942.1:p.Lys50Met
ENST00000554944.5:n.179A>T
ENST00000555020.5:n.179A>T
ENST00000555086.5:n.153A>T
ENST00000555214.5:n.158A>T
ENST00000556157.1:n.256A>T
ENST00000556244.1:c.33A>T
ENST00000556278.1:c.149A>T ENSP00000451792.1:p.Lys50Met
ENST00000556403.5:n.162A>T
ENST00000556494.5:n.181A>T
ENST00000557541.5:n.342A>T
ENST00000557706.5:n.263A>T
NM_000155.3:c.149A>T NP_000146.2:p.Lys50Met
NM_001258332.1:c.-54A>T NP_001245261.1:n.-54A>T
NM_000155.4:c.149A>T MANE Select NP_000146.2:p.Lys50Met
NM_001258332.2:c.-54A>T NP_001245261.1:n.-54A>T