Canonical Allele Identifier: CA274482
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 189191
dbSNP Id: rs786204763
gnomAD v2: 9-34648846-C-T
gnomAD v4: 9-34648849-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648849C>T , CM000671.2:g.34648849C>T GRCh38
NC_000009.11:g.34648846C>T , CM000671.1:g.34648846C>T GRCh37
NC_000009.10:g.34638846C>T NCBI36
NG_009029.1:g.7211C>T
NG_028966.1:g.1665C>T
NG_009029.2:g.7261C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*363C>T ENSP00000509954.1:n.*363C>T
ENST00000378842.8:c.775C>T MANE Select ENSP00000368119.4:p.Arg259Trp
ENST00000378842.7:c.775C>T ENSP00000368119.3:p.Arg259Trp
ENST00000450095.6:c.448C>T ENSP00000401956.2:p.Arg150Trp
ENST00000473506.6:c.*363C>T ENSP00000432839.2:n.*363C>T
ENST00000489643.6:n.855C>T
ENST00000554085.5:c.*519C>T ENSP00000450419.1:n.*519C>T
ENST00000554550.5:c.*395C>T ENSP00000451435.1:n.*395C>T
ENST00000554638.5:n.1247C>T
ENST00000555020.5:n.1236C>T
ENST00000555086.5:n.779C>T
ENST00000555754.1:n.120C>T
ENST00000556244.1:c.762C>T
ENST00000556278.1:c.432+393C>T ENSP00000451792.1:n.432+393C>T
ENST00000557706.5:n.1337C>T
NM_000155.3:c.775C>T NP_000146.2:p.Arg259Trp
NM_001258332.1:c.448C>T NP_001245261.1:p.Arg150Trp
NM_000155.4:c.775C>T MANE Select NP_000146.2:p.Arg259Trp
NM_001258332.2:c.448C>T NP_001245261.1:p.Arg150Trp