Canonical Allele Identifier: CA259434
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25211
ClinVar RCV Id: RCV000022147
dbSNP Id: rs111033826
gnomAD v4: 9-34648160-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648160C>T , CM000671.2:g.34648160C>T GRCh38
NC_000009.11:g.34648157C>T , CM000671.1:g.34648157C>T GRCh37
NC_000009.10:g.34638157C>T NCBI36
NG_009029.1:g.6523C>T
NG_028966.1:g.976C>T
NG_009029.2:g.6572C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*141C>T ENSP00000509954.1:n.*141C>T
ENST00000378842.8:c.553C>T MANE Select ENSP00000368119.4:p.Pro185Ser
ENST00000378842.7:c.553C>T ENSP00000368119.3:p.Pro185Ser
ENST00000450095.6:c.226C>T ENSP00000401956.2:p.Pro76Ser
ENST00000465543.6:n.892C>T
ENST00000472111.5:n.809C>T
ENST00000473506.6:c.*141C>T ENSP00000432839.2:n.*141C>T
ENST00000473529.5:n.712C>T
ENST00000485531.1:n.1147C>T
ENST00000487381.5:n.938C>T
ENST00000489643.6:n.328C>T
ENST00000554085.5:c.*297C>T ENSP00000450419.1:n.*297C>T
ENST00000554139.5:n.799C>T
ENST00000554550.5:c.*173C>T ENSP00000451435.1:n.*173C>T
ENST00000554638.5:n.1025C>T
ENST00000554897.5:c.*240C>T ENSP00000450942.1:n.*240C>T
ENST00000554944.5:n.902C>T
ENST00000555020.5:n.709C>T
ENST00000555086.5:n.557C>T
ENST00000555214.5:n.374C>T
ENST00000556244.1:c.540C>T
ENST00000556278.1:c.298C>T ENSP00000451792.1:p.Pro100Ser
ENST00000556494.5:n.674C>T
ENST00000557706.5:n.1115C>T
NM_000155.3:c.553C>T NP_000146.2:p.Pro185Ser
NM_001258332.1:c.226C>T NP_001245261.1:p.Pro76Ser
NM_000155.4:c.553C>T MANE Select NP_000146.2:p.Pro185Ser
NM_001258332.2:c.226C>T NP_001245261.1:p.Pro76Ser