Canonical Allele Identifier: CA259457
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25232
ClinVar RCV Id: RCV000022168 RCV001826497
dbSNP Id: rs111033744
gnomAD v4: 9-34648395-A-C
MyVariant Identifiers: chr9:g.34648392A>C (hg19) chr9:g.34648395A>C (hg38)
PubMed: PMID:11261429
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648395A>C , CM000671.2:g.34648395A>C GRCh38
NC_000009.11:g.34648392A>C , CM000671.1:g.34648392A>C GRCh37
NC_000009.10:g.34638392A>C NCBI36
NG_009029.1:g.6758A>C
NG_028966.1:g.1211A>C
NG_009029.2:g.6807A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*214A>C ENSP00000509954.1:n.*214A>C
ENST00000378842.8:c.626A>C MANE Select ENSP00000368119.4:p.Tyr209Ser
ENST00000378842.7:c.626A>C ENSP00000368119.3:p.Tyr209Ser
ENST00000450095.6:c.299A>C ENSP00000401956.2:p.Tyr100Ser
ENST00000472111.5:n.882A>C
ENST00000473506.6:c.*214A>C ENSP00000432839.2:n.*214A>C
ENST00000473529.5:n.785A>C
ENST00000487381.5:n.1011A>C
ENST00000489643.6:n.401A>C
ENST00000554085.5:c.*370A>C ENSP00000450419.1:n.*370A>C
ENST00000554550.5:c.*246A>C ENSP00000451435.1:n.*246A>C
ENST00000554638.5:n.1098A>C
ENST00000555020.5:n.782A>C
ENST00000555086.5:n.630A>C
ENST00000555214.5:n.447A>C
ENST00000556244.1:c.613A>C
ENST00000556278.1:c.371A>C ENSP00000451792.1:p.Tyr124Ser
ENST00000556494.5:n.747A>C
ENST00000557706.5:n.1188A>C
NM_000155.3:c.626A>C NP_000146.2:p.Tyr209Ser
NM_001258332.1:c.299A>C NP_001245261.1:p.Tyr100Ser
NM_000155.4:c.626A>C MANE Select NP_000146.2:p.Tyr209Ser
NM_001258332.2:c.299A>C NP_001245261.1:p.Tyr100Ser
Search 100 bp 5'
Search 100 bp 3'