Canonical Allele Identifier: CA373284071
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648893T>G , CM000671.2:g.34648893T>G GRCh38
NC_000009.11:g.34648890T>G , CM000671.1:g.34648890T>G GRCh37
NC_000009.10:g.34638890T>G NCBI36
NG_009029.1:g.7256T>G
NG_028966.1:g.1709T>G
NG_009029.2:g.7305T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*407T>G ENSP00000509954.1:n.*407T>G
ENST00000378842.8:c.819T>G MANE Select ENSP00000368119.4:p.Asp273Glu
ENST00000378842.7:c.819T>G ENSP00000368119.3:p.Asp273Glu
ENST00000450095.6:c.492T>G ENSP00000401956.2:p.Asp164Glu
ENST00000473506.6:c.*407T>G ENSP00000432839.2:n.*407T>G
ENST00000489643.6:n.899T>G
ENST00000554085.5:c.*563T>G ENSP00000450419.1:n.*563T>G
ENST00000554550.5:c.*439T>G ENSP00000451435.1:n.*439T>G
ENST00000554638.5:n.1291T>G
ENST00000555020.5:n.1280T>G
ENST00000555086.5:n.823T>G
ENST00000555754.1:n.164T>G
ENST00000556244.1:c.806T>G
ENST00000556278.1:c.432+437T>G ENSP00000451792.1:n.432+437T>G
ENST00000557706.5:n.1381T>G
NM_000155.3:c.819T>G NP_000146.2:p.Asp273Glu
NM_001258332.1:c.492T>G NP_001245261.1:p.Asp164Glu
NM_000155.4:c.819T>G MANE Select NP_000146.2:p.Asp273Glu
NM_001258332.2:c.492T>G NP_001245261.1:p.Asp164Glu