Canonical Allele Identifier: CA373284054
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648891G>T , CM000671.2:g.34648891G>T GRCh38
NC_000009.11:g.34648888G>T , CM000671.1:g.34648888G>T GRCh37
NC_000009.10:g.34638888G>T NCBI36
NG_009029.1:g.7254G>T
NG_028966.1:g.1707G>T
NG_009029.2:g.7303G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*405G>T ENSP00000509954.1:n.*405G>T
ENST00000378842.8:c.817G>T MANE Select ENSP00000368119.4:p.Asp273Tyr
ENST00000378842.7:c.817G>T ENSP00000368119.3:p.Asp273Tyr
ENST00000450095.6:c.490G>T ENSP00000401956.2:p.Asp164Tyr
ENST00000473506.6:c.*405G>T ENSP00000432839.2:n.*405G>T
ENST00000489643.6:n.897G>T
ENST00000554085.5:c.*561G>T ENSP00000450419.1:n.*561G>T
ENST00000554550.5:c.*437G>T ENSP00000451435.1:n.*437G>T
ENST00000554638.5:n.1289G>T
ENST00000555020.5:n.1278G>T
ENST00000555086.5:n.821G>T
ENST00000555754.1:n.162G>T
ENST00000556244.1:c.804G>T
ENST00000556278.1:c.432+435G>T ENSP00000451792.1:n.432+435G>T
ENST00000557706.5:n.1379G>T
NM_000155.3:c.817G>T NP_000146.2:p.Asp273Tyr
NM_001258332.1:c.490G>T NP_001245261.1:p.Asp164Tyr
NM_000155.4:c.817G>T MANE Select NP_000146.2:p.Asp273Tyr
NM_001258332.2:c.490G>T NP_001245261.1:p.Asp164Tyr