Canonical Allele Identifier: CA373283974
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648872G>T , CM000671.2:g.34648872G>T GRCh38
NC_000009.11:g.34648869G>T , CM000671.1:g.34648869G>T GRCh37
NC_000009.10:g.34638869G>T NCBI36
NG_009029.1:g.7235G>T
NG_028966.1:g.1688G>T
NG_009029.2:g.7284G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*386G>T ENSP00000509954.1:n.*386G>T
ENST00000378842.8:c.798G>T MANE Select ENSP00000368119.4:p.Glu266Asp
ENST00000378842.7:c.798G>T ENSP00000368119.3:p.Glu266Asp
ENST00000450095.6:c.471G>T ENSP00000401956.2:p.Glu157Asp
ENST00000473506.6:c.*386G>T ENSP00000432839.2:n.*386G>T
ENST00000489643.6:n.878G>T
ENST00000554085.5:c.*542G>T ENSP00000450419.1:n.*542G>T
ENST00000554550.5:c.*418G>T ENSP00000451435.1:n.*418G>T
ENST00000554638.5:n.1270G>T
ENST00000555020.5:n.1259G>T
ENST00000555086.5:n.802G>T
ENST00000555754.1:n.143G>T
ENST00000556244.1:c.785G>T
ENST00000556278.1:c.432+416G>T ENSP00000451792.1:n.432+416G>T
ENST00000557706.5:n.1360G>T
NM_000155.3:c.798G>T NP_000146.2:p.Glu266Asp
NM_001258332.1:c.471G>T NP_001245261.1:p.Glu157Asp
NM_000155.4:c.798G>T MANE Select NP_000146.2:p.Glu266Asp
NM_001258332.2:c.471G>T NP_001245261.1:p.Glu157Asp