Canonical Allele Identifier: CA259460
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25234
ClinVar RCV Id: RCV000022170 RCV000723558
dbSNP Id: rs111033746
gnomAD v4: 9-34648403-C-T
MyVariant Identifiers: chr9:g.34648400C>T (hg19) chr9:g.34648403C>T (hg38)
PubMed: PMID:8522334 PMID:9222760 PMID:17876724
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648403C>T , CM000671.2:g.34648403C>T GRCh38
NC_000009.11:g.34648400C>T , CM000671.1:g.34648400C>T GRCh37
NC_000009.10:g.34638400C>T NCBI36
NG_009029.1:g.6766C>T
NG_028966.1:g.1219C>T
NG_009029.2:g.6815C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*222C>T ENSP00000509954.1:n.*222C>T
ENST00000378842.8:c.634C>T MANE Select ENSP00000368119.4:p.Gln212Ter
ENST00000378842.7:c.634C>T ENSP00000368119.3:p.Gln212Ter
ENST00000450095.6:c.307C>T ENSP00000401956.2:p.Gln103Ter
ENST00000472111.5:n.890C>T
ENST00000473506.6:c.*222C>T ENSP00000432839.2:n.*222C>T
ENST00000473529.5:n.793C>T
ENST00000487381.5:n.1019C>T
ENST00000489643.6:n.409C>T
ENST00000554085.5:c.*378C>T ENSP00000450419.1:n.*378C>T
ENST00000554550.5:c.*254C>T ENSP00000451435.1:n.*254C>T
ENST00000554638.5:n.1106C>T
ENST00000555020.5:n.790C>T
ENST00000555086.5:n.638C>T
ENST00000555214.5:n.455C>T
ENST00000556244.1:c.621C>T
ENST00000556278.1:c.379C>T ENSP00000451792.1:p.Gln127Ter
ENST00000556494.5:n.755C>T
ENST00000557706.5:n.1196C>T
NM_000155.3:c.634C>T NP_000146.2:p.Gln212Ter
NM_001258332.1:c.307C>T NP_001245261.1:p.Gln103Ter
NM_000155.4:c.634C>T MANE Select NP_000146.2:p.Gln212Ter
NM_001258332.2:c.307C>T NP_001245261.1:p.Gln103Ter
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