Canonical Allele Identifier: CA16606515
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 390761
ClinVar RCV Id: RCV000439035
dbSNP Id: rs1057523885
MyVariant Identifiers: chr9:g.34647654G>A (hg19) chr9:g.34647657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647657G>A , CM000671.2:g.34647657G>A GRCh38
NC_000009.11:g.34647654G>A , CM000671.1:g.34647654G>A GRCh37
NC_000009.10:g.34637654G>A NCBI36
NG_009029.1:g.6020G>A
NG_028966.1:g.473G>A
NG_009029.2:g.6069G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+90G>A ENSP00000509954.1:n.328+90G>A
ENST00000378842.8:c.329G>A MANE Select ENSP00000368119.4:p.Gly110Glu
ENST00000378842.7:c.329G>A ENSP00000368119.3:p.Gly110Glu
ENST00000450095.6:c.51-175G>A ENSP00000401956.2:n.51-175G>A
ENST00000465543.6:n.668G>A
ENST00000472111.5:n.459G>A
ENST00000473506.6:c.280G>A ENSP00000432839.2:p.Asp94Asn
ENST00000473529.5:n.465G>A
ENST00000485531.1:n.644G>A
ENST00000487381.5:n.588G>A
ENST00000489643.6:n.282+399G>A
ENST00000554085.5:c.*73G>A ENSP00000450419.1:n.*73G>A
ENST00000554139.5:n.382G>A
ENST00000554330.5:n.366G>A
ENST00000554550.5:c.253-175G>A ENSP00000451435.1:n.253-175G>A
ENST00000554638.5:n.675G>A
ENST00000554897.5:c.253-175G>A ENSP00000450942.1:n.253-175G>A
ENST00000554944.5:n.399G>A
ENST00000555020.5:n.359G>A
ENST00000555086.5:n.333G>A
ENST00000555214.5:n.262-391G>A
ENST00000556157.1:n.453G>A
ENST00000556244.1:c.316G>A
ENST00000556278.1:c.252+399G>A ENSP00000451792.1:n.252+399G>A
ENST00000556403.5:n.431G>A
ENST00000556494.5:n.450G>A
ENST00000557541.5:n.473G>A
ENST00000557706.5:n.765G>A
NM_000155.3:c.329G>A NP_000146.2:p.Gly110Glu
NM_001258332.1:c.51-175G>A NP_001245261.1:n.51-175G>A
NM_000155.4:c.329G>A MANE Select NP_000146.2:p.Gly110Glu
NM_001258332.2:c.51-175G>A NP_001245261.1:n.51-175G>A
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