Canonical Allele Identifier: CA373281698
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648167G>T , CM000671.2:g.34648167G>T GRCh38
NC_000009.11:g.34648164G>T , CM000671.1:g.34648164G>T GRCh37
NC_000009.10:g.34638164G>T NCBI36
NG_009029.1:g.6530G>T
NG_028966.1:g.983G>T
NG_009029.2:g.6579G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*148G>T ENSP00000509954.1:n.*148G>T
ENST00000378842.8:c.560G>T MANE Select ENSP00000368119.4:p.Cys187Phe
ENST00000378842.7:c.560G>T ENSP00000368119.3:p.Cys187Phe
ENST00000450095.6:c.233G>T ENSP00000401956.2:p.Cys78Phe
ENST00000465543.6:n.899G>T
ENST00000472111.5:n.816G>T
ENST00000473506.6:c.*148G>T ENSP00000432839.2:n.*148G>T
ENST00000473529.5:n.719G>T
ENST00000485531.1:n.1154G>T
ENST00000487381.5:n.945G>T
ENST00000489643.6:n.335G>T
ENST00000554085.5:c.*304G>T ENSP00000450419.1:n.*304G>T
ENST00000554139.5:n.806G>T
ENST00000554550.5:c.*180G>T ENSP00000451435.1:n.*180G>T
ENST00000554638.5:n.1032G>T
ENST00000554897.5:c.*247G>T ENSP00000450942.1:n.*247G>T
ENST00000554944.5:n.909G>T
ENST00000555020.5:n.716G>T
ENST00000555086.5:n.564G>T
ENST00000555214.5:n.381G>T
ENST00000556244.1:c.547G>T
ENST00000556278.1:c.305G>T ENSP00000451792.1:p.Cys102Phe
ENST00000556494.5:n.681G>T
ENST00000557706.5:n.1122G>T
NM_000155.3:c.560G>T NP_000146.2:p.Cys187Phe
NM_001258332.1:c.233G>T NP_001245261.1:p.Cys78Phe
NM_000155.4:c.560G>T MANE Select NP_000146.2:p.Cys187Phe
NM_001258332.2:c.233G>T NP_001245261.1:p.Cys78Phe