Canonical Allele Identifier: CA373280186
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647568G>T , CM000671.2:g.34647568G>T GRCh38
NC_000009.11:g.34647565G>T , CM000671.1:g.34647565G>T GRCh37
NC_000009.10:g.34637565G>T NCBI36
NG_009029.1:g.5931G>T
NG_028966.1:g.384G>T
NG_009029.2:g.5980G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+1G>T ENSP00000509954.1:n.328+1G>T
ENST00000378842.8:c.328+1G>T MANE Select ENSP00000368119.4:n.328+1G>T
ENST00000378842.7:c.328+1G>T ENSP00000368119.3:n.328+1G>T
ENST00000450095.6:c.51-264G>T ENSP00000401956.2:n.51-264G>T
ENST00000465543.6:n.667+1G>T
ENST00000472111.5:n.370G>T
ENST00000473506.6:c.279+1G>T ENSP00000432839.2:n.279+1G>T
ENST00000473529.5:n.376G>T
ENST00000485531.1:n.555G>T
ENST00000487381.5:n.587+1G>T
ENST00000489643.6:n.282+310G>T
ENST00000554085.5:c.*72+1G>T ENSP00000450419.1:n.*72+1G>T
ENST00000554139.5:n.381+1G>T
ENST00000554330.5:n.277G>T
ENST00000554550.5:c.253-264G>T ENSP00000451435.1:n.253-264G>T
ENST00000554638.5:n.586G>T
ENST00000554897.5:c.253-264G>T ENSP00000450942.1:n.253-264G>T
ENST00000554944.5:n.310G>T
ENST00000555020.5:n.358+1G>T
ENST00000555086.5:n.332+1G>T
ENST00000555214.5:n.261+310G>T
ENST00000556157.1:n.452+1G>T
ENST00000556244.1:c.315+1G>T
ENST00000556278.1:c.252+310G>T ENSP00000451792.1:n.252+310G>T
ENST00000556403.5:n.342G>T
ENST00000556494.5:n.361G>T
ENST00000557541.5:n.472+1G>T
ENST00000557706.5:n.676G>T
NM_000155.3:c.328+1G>T NP_000146.2:n.328+1G>T
NM_001258332.1:c.51-264G>T NP_001245261.1:n.51-264G>T
NM_000155.4:c.328+1G>T MANE Select NP_000146.2:n.328+1G>T
NM_001258332.2:c.51-264G>T NP_001245261.1:n.51-264G>T