Canonical Allele Identifier: CA373280853
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647899G>T , CM000671.2:g.34647899G>T GRCh38
NC_000009.11:g.34647896G>T , CM000671.1:g.34647896G>T GRCh37
NC_000009.10:g.34637896G>T NCBI36
NG_009029.1:g.6262G>T
NG_028966.1:g.715G>T
NG_009029.2:g.6311G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*33G>T ENSP00000509954.1:n.*33G>T
ENST00000378842.8:c.445G>T MANE Select ENSP00000368119.4:p.Ala149Ser
ENST00000378842.7:c.445G>T ENSP00000368119.3:p.Ala149Ser
ENST00000450095.6:c.118G>T ENSP00000401956.2:p.Ala40Ser
ENST00000465543.6:n.784G>T
ENST00000472111.5:n.701G>T
ENST00000473506.6:c.*33G>T ENSP00000432839.2:n.*33G>T
ENST00000473529.5:n.581G>T
ENST00000485531.1:n.886G>T
ENST00000487381.5:n.830G>T
ENST00000489643.6:n.283-216G>T
ENST00000554085.5:c.*189G>T ENSP00000450419.1:n.*189G>T
ENST00000554139.5:n.624G>T
ENST00000554550.5:c.*65G>T ENSP00000451435.1:n.*65G>T
ENST00000554638.5:n.917G>T
ENST00000554897.5:c.*65G>T ENSP00000450942.1:n.*65G>T
ENST00000554944.5:n.641G>T
ENST00000555020.5:n.601G>T
ENST00000555086.5:n.449G>T
ENST00000555214.5:n.262-149G>T
ENST00000556244.1:c.432G>T
ENST00000556278.1:c.253-216G>T ENSP00000451792.1:n.253-216G>T
ENST00000556494.5:n.566G>T
ENST00000557541.5:n.589G>T
ENST00000557706.5:n.1007G>T
NM_000155.3:c.445G>T NP_000146.2:p.Ala149Ser
NM_001258332.1:c.118G>T NP_001245261.1:p.Ala40Ser
NM_000155.4:c.445G>T MANE Select NP_000146.2:p.Ala149Ser
NM_001258332.2:c.118G>T NP_001245261.1:p.Ala40Ser