Canonical Allele Identifier: CA220416
Gene: GALT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 25132
dbSNP Id: rs111033652

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647140C>T , CM000671.2:g.34647140C>T GRCh38
NC_000009.10:g.34637137C>T NCBI36
NC_000009.11:g.34647137C>T , CM000671.1:g.34647137C>T GRCh37
NG_009029.1:g.5503C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378842.7:c.134C>T ENSP00000368119.3:p.Ser45Leu
ENST00000450095.6:c.-69C>T ENSP00000401956.2:p.=
ENST00000465543.6:n.473C>T
ENST00000468099.2:n.174C>T
ENST00000472111.5:n.175C>T
ENST00000473506.6:c.134C>T ENSP00000432839.2:p.Ser45Leu
ENST00000473529.5:n.181C>T
ENST00000485531.1:n.127C>T
ENST00000487381.5:n.160C>T
ENST00000489643.6:n.164C>T
ENST00000554085.5:c.134C>T ENSP00000450419.1:p.Ser45Leu
ENST00000554139.5:n.187C>T
ENST00000554330.5:n.131C>T
ENST00000554550.5:c.134C>T ENSP00000451435.1:p.Ser45Leu
ENST00000554638.5:n.158C>T
ENST00000554897.5:c.134C>T ENSP00000450942.1:p.Ser45Leu
ENST00000554944.5:n.164C>T
ENST00000555020.5:n.164C>T
ENST00000555086.5:n.138C>T
ENST00000555214.5:n.143C>T
ENST00000556157.1:n.241C>T
ENST00000556244.1:n.18C>T
ENST00000556278.1:c.134C>T ENSP00000451792.1:p.Ser45Leu
ENST00000556403.5:n.147C>T
ENST00000556494.5:n.166C>T
ENST00000557541.5:n.327C>T
ENST00000557706.5:n.248C>T
ENST00000605275.1:n.672C>T
NM_000155.3:c.134C>T VV NP_000146.2:p.Ser45Leu
NM_001258332.1:c.-69C>T VV NP_001245261.1:p.=