Canonical Allele Identifier: CA373284076
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648894G>T , CM000671.2:g.34648894G>T GRCh38
NC_000009.11:g.34648891G>T , CM000671.1:g.34648891G>T GRCh37
NC_000009.10:g.34638891G>T NCBI36
NG_009029.1:g.7257G>T
NG_028966.1:g.1710G>T
NG_009029.2:g.7306G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*408G>T ENSP00000509954.1:n.*408G>T
ENST00000378842.8:c.820G>T MANE Select ENSP00000368119.4:p.Asp274Tyr
ENST00000378842.7:c.820G>T ENSP00000368119.3:p.Asp274Tyr
ENST00000450095.6:c.493G>T ENSP00000401956.2:p.Asp165Tyr
ENST00000473506.6:c.*408G>T ENSP00000432839.2:n.*408G>T
ENST00000489643.6:n.900G>T
ENST00000554085.5:c.*564G>T ENSP00000450419.1:n.*564G>T
ENST00000554550.5:c.*440G>T ENSP00000451435.1:n.*440G>T
ENST00000554638.5:n.1292G>T
ENST00000555020.5:n.1281G>T
ENST00000555086.5:n.824G>T
ENST00000555754.1:n.165G>T
ENST00000556244.1:c.807G>T
ENST00000556278.1:c.432+438G>T ENSP00000451792.1:n.432+438G>T
ENST00000557706.5:n.1382G>T
NM_000155.3:c.820G>T NP_000146.2:p.Asp274Tyr
NM_001258332.1:c.493G>T NP_001245261.1:p.Asp165Tyr
NM_000155.4:c.820G>T MANE Select NP_000146.2:p.Asp274Tyr
NM_001258332.2:c.493G>T NP_001245261.1:p.Asp165Tyr