Canonical Allele Identifier: CA373280902
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647910T>A , CM000671.2:g.34647910T>A GRCh38
NC_000009.11:g.34647907T>A , CM000671.1:g.34647907T>A GRCh37
NC_000009.10:g.34637907T>A NCBI36
NG_009029.1:g.6273T>A
NG_028966.1:g.726T>A
NG_009029.2:g.6322T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*44T>A ENSP00000509954.1:n.*44T>A
ENST00000378842.8:c.456T>A MANE Select ENSP00000368119.4:p.Asp152Glu
ENST00000378842.7:c.456T>A ENSP00000368119.3:p.Asp152Glu
ENST00000450095.6:c.129T>A ENSP00000401956.2:p.Asp43Glu
ENST00000465543.6:n.795T>A
ENST00000472111.5:n.712T>A
ENST00000473506.6:c.*44T>A ENSP00000432839.2:n.*44T>A
ENST00000473529.5:n.592T>A
ENST00000485531.1:n.897T>A
ENST00000487381.5:n.841T>A
ENST00000489643.6:n.283-205T>A
ENST00000554085.5:c.*200T>A ENSP00000450419.1:n.*200T>A
ENST00000554139.5:n.635T>A
ENST00000554550.5:c.*76T>A ENSP00000451435.1:n.*76T>A
ENST00000554638.5:n.928T>A
ENST00000554897.5:c.*76T>A ENSP00000450942.1:n.*76T>A
ENST00000554944.5:n.652T>A
ENST00000555020.5:n.612T>A
ENST00000555086.5:n.460T>A
ENST00000555214.5:n.262-138T>A
ENST00000556244.1:c.443T>A
ENST00000556278.1:c.253-205T>A ENSP00000451792.1:n.253-205T>A
ENST00000556494.5:n.577T>A
ENST00000557706.5:n.1018T>A
NM_000155.3:c.456T>A NP_000146.2:p.Asp152Glu
NM_001258332.1:c.129T>A NP_001245261.1:p.Asp43Glu
NM_000155.4:c.456T>A MANE Select NP_000146.2:p.Asp152Glu
NM_001258332.2:c.129T>A NP_001245261.1:p.Asp43Glu