Canonical Allele Identifier: CA373278550
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647122A>C , CM000671.2:g.34647122A>C GRCh38
NC_000009.11:g.34647119A>C , CM000671.1:g.34647119A>C GRCh37
NC_000009.10:g.34637119A>C NCBI36
NG_009029.1:g.5485A>C
NG_009029.2:g.5534A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.116A>C ENSP00000509954.1:p.Asp39Ala
ENST00000378842.8:c.116A>C MANE Select ENSP00000368119.4:p.Asp39Ala
ENST00000378842.7:c.116A>C ENSP00000368119.3:p.Asp39Ala
ENST00000450095.6:c.-87A>C ENSP00000401956.2:n.-87A>C
ENST00000465543.6:n.455A>C
ENST00000468099.2:n.156A>C
ENST00000472111.5:n.157A>C
ENST00000473506.6:c.116A>C ENSP00000432839.2:p.Asp39Ala
ENST00000473529.5:n.163A>C
ENST00000485531.1:n.109A>C
ENST00000487381.5:n.142A>C
ENST00000489643.6:n.146A>C
ENST00000554085.5:c.116A>C ENSP00000450419.1:p.Asp39Ala
ENST00000554139.5:n.169A>C
ENST00000554330.5:n.113A>C
ENST00000554550.5:c.116A>C ENSP00000451435.1:p.Asp39Ala
ENST00000554638.5:n.140A>C
ENST00000554897.5:c.116A>C ENSP00000450942.1:p.Asp39Ala
ENST00000554944.5:n.146A>C
ENST00000555020.5:n.146A>C
ENST00000555086.5:n.120A>C
ENST00000555214.5:n.125A>C
ENST00000556157.1:n.223A>C
ENST00000556278.1:c.116A>C ENSP00000451792.1:p.Asp39Ala
ENST00000556403.5:n.129A>C
ENST00000556494.5:n.148A>C
ENST00000557541.5:n.309A>C
ENST00000557706.5:n.230A>C
ENST00000605275.1:n.654A>C
NM_000155.3:c.116A>C NP_000146.2:p.Asp39Ala
NM_001258332.1:c.-87A>C NP_001245261.1:n.-87A>C
NM_000155.4:c.116A>C MANE Select NP_000146.2:p.Asp39Ala
NM_001258332.2:c.-87A>C NP_001245261.1:n.-87A>C