Canonical Allele Identifier: CA373283996
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648876A>G , CM000671.2:g.34648876A>G GRCh38
NC_000009.11:g.34648873A>G , CM000671.1:g.34648873A>G GRCh37
NC_000009.10:g.34638873A>G NCBI36
NG_009029.1:g.7239A>G
NG_028966.1:g.1692A>G
NG_009029.2:g.7288A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*390A>G ENSP00000509954.1:n.*390A>G
ENST00000378842.8:c.802A>G MANE Select ENSP00000368119.4:p.Thr268Ala
ENST00000378842.7:c.802A>G ENSP00000368119.3:p.Thr268Ala
ENST00000450095.6:c.475A>G ENSP00000401956.2:p.Thr159Ala
ENST00000473506.6:c.*390A>G ENSP00000432839.2:n.*390A>G
ENST00000489643.6:n.882A>G
ENST00000554085.5:c.*546A>G ENSP00000450419.1:n.*546A>G
ENST00000554550.5:c.*422A>G ENSP00000451435.1:n.*422A>G
ENST00000554638.5:n.1274A>G
ENST00000555020.5:n.1263A>G
ENST00000555086.5:n.806A>G
ENST00000555754.1:n.147A>G
ENST00000556244.1:c.789A>G
ENST00000556278.1:c.432+420A>G ENSP00000451792.1:n.432+420A>G
ENST00000557706.5:n.1364A>G
NM_000155.3:c.802A>G NP_000146.2:p.Thr268Ala
NM_001258332.1:c.475A>G NP_001245261.1:p.Thr159Ala
NM_000155.4:c.802A>G MANE Select NP_000146.2:p.Thr268Ala
NM_001258332.2:c.475A>G NP_001245261.1:p.Thr159Ala