Canonical Allele Identifier: CA373280638
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647855G>T , CM000671.2:g.34647855G>T GRCh38
NC_000009.11:g.34647852G>T , CM000671.1:g.34647852G>T GRCh37
NC_000009.10:g.34637852G>T NCBI36
NG_009029.1:g.6218G>T
NG_028966.1:g.671G>T
NG_009029.2:g.6267G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.352G>T ENSP00000509954.1:p.Gly118Cys
ENST00000378842.8:c.401G>T MANE Select ENSP00000368119.4:p.Trp134Leu
ENST00000378842.7:c.401G>T ENSP00000368119.3:p.Trp134Leu
ENST00000450095.6:c.74G>T ENSP00000401956.2:p.Trp25Leu
ENST00000465543.6:n.740G>T
ENST00000472111.5:n.657G>T
ENST00000473506.6:c.352G>T ENSP00000432839.2:p.Gly118Cys
ENST00000473529.5:n.537G>T
ENST00000485531.1:n.842G>T
ENST00000487381.5:n.786G>T
ENST00000489643.6:n.283-260G>T
ENST00000554085.5:c.*145G>T ENSP00000450419.1:n.*145G>T
ENST00000554139.5:n.580G>T
ENST00000554550.5:c.*21G>T ENSP00000451435.1:n.*21G>T
ENST00000554638.5:n.873G>T
ENST00000554897.5:c.*21G>T ENSP00000450942.1:n.*21G>T
ENST00000554944.5:n.597G>T
ENST00000555020.5:n.557G>T
ENST00000555086.5:n.405G>T
ENST00000555214.5:n.262-193G>T
ENST00000556244.1:c.388G>T
ENST00000556278.1:c.253-260G>T ENSP00000451792.1:n.253-260G>T
ENST00000556494.5:n.522G>T
ENST00000557541.5:n.545G>T
ENST00000557706.5:n.963G>T
NM_000155.3:c.401G>T NP_000146.2:p.Trp134Leu
NM_001258332.1:c.74G>T NP_001245261.1:p.Trp25Leu
NM_000155.4:c.401G>T MANE Select NP_000146.2:p.Trp134Leu
NM_001258332.2:c.74G>T NP_001245261.1:p.Trp25Leu