Canonical Allele Identifier: CA373280403
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647687A>T , CM000671.2:g.34647687A>T GRCh38
NC_000009.11:g.34647684A>T , CM000671.1:g.34647684A>T GRCh37
NC_000009.10:g.34637684A>T NCBI36
NG_009029.1:g.6050A>T
NG_028966.1:g.503A>T
NG_009029.2:g.6099A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+120A>T ENSP00000509954.1:n.328+120A>T
ENST00000378842.8:c.359A>T MANE Select ENSP00000368119.4:p.Lys120Met
ENST00000378842.7:c.359A>T ENSP00000368119.3:p.Lys120Met
ENST00000450095.6:c.51-145A>T ENSP00000401956.2:n.51-145A>T
ENST00000465543.6:n.698A>T
ENST00000472111.5:n.489A>T
ENST00000473506.6:c.310A>T ENSP00000432839.2:p.Ser104Cys
ENST00000473529.5:n.495A>T
ENST00000485531.1:n.674A>T
ENST00000487381.5:n.618A>T
ENST00000489643.6:n.283-428A>T
ENST00000554085.5:c.*103A>T ENSP00000450419.1:n.*103A>T
ENST00000554139.5:n.412A>T
ENST00000554330.5:n.396A>T
ENST00000554550.5:c.253-145A>T ENSP00000451435.1:n.253-145A>T
ENST00000554638.5:n.705A>T
ENST00000554897.5:c.253-145A>T ENSP00000450942.1:n.253-145A>T
ENST00000554944.5:n.429A>T
ENST00000555020.5:n.389A>T
ENST00000555086.5:n.363A>T
ENST00000555214.5:n.262-361A>T
ENST00000556157.1:n.483A>T
ENST00000556244.1:c.346A>T
ENST00000556278.1:c.253-428A>T ENSP00000451792.1:n.253-428A>T
ENST00000556403.5:n.461A>T
ENST00000556494.5:n.480A>T
ENST00000557541.5:n.503A>T
ENST00000557706.5:n.795A>T
NM_000155.3:c.359A>T NP_000146.2:p.Lys120Met
NM_001258332.1:c.51-145A>T NP_001245261.1:n.51-145A>T
NM_000155.4:c.359A>T MANE Select NP_000146.2:p.Lys120Met
NM_001258332.2:c.51-145A>T NP_001245261.1:n.51-145A>T