Canonical Allele Identifier: CA259402
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033700
MyVariant Identifiers: chr9:g.34647933T>C (hg19) chr9:g.34647936T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647936T>C , CM000671.2:g.34647936T>C GRCh38
NC_000009.11:g.34647933T>C , CM000671.1:g.34647933T>C GRCh37
NC_000009.10:g.34637933T>C NCBI36
NG_009029.1:g.6299T>C
NG_028966.1:g.752T>C
NG_009029.2:g.6348T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*70T>C ENSP00000509954.1:n.*70T>C
ENST00000378842.8:c.482T>C MANE Select ENSP00000368119.4:p.Leu161Pro
ENST00000378842.7:c.482T>C ENSP00000368119.3:p.Leu161Pro
ENST00000450095.6:c.155T>C ENSP00000401956.2:p.Leu52Pro
ENST00000465543.6:n.821T>C
ENST00000472111.5:n.738T>C
ENST00000473506.6:c.*70T>C ENSP00000432839.2:n.*70T>C
ENST00000473529.5:n.618T>C
ENST00000485531.1:n.923T>C
ENST00000487381.5:n.867T>C
ENST00000489643.6:n.283-179T>C
ENST00000554085.5:c.*226T>C ENSP00000450419.1:n.*226T>C
ENST00000554139.5:n.661T>C
ENST00000554550.5:c.*102T>C ENSP00000451435.1:n.*102T>C
ENST00000554638.5:n.954T>C
ENST00000554897.5:c.*102T>C ENSP00000450942.1:n.*102T>C
ENST00000554944.5:n.678T>C
ENST00000555020.5:n.638T>C
ENST00000555086.5:n.486T>C
ENST00000555214.5:n.262-112T>C
ENST00000556244.1:c.469T>C
ENST00000556278.1:c.253-179T>C ENSP00000451792.1:n.253-179T>C
ENST00000556494.5:n.603T>C
ENST00000557706.5:n.1044T>C
NM_000155.3:c.482T>C NP_000146.2:p.Leu161Pro
NM_001258332.1:c.155T>C NP_001245261.1:p.Leu52Pro
NM_000155.4:c.482T>C MANE Select NP_000146.2:p.Leu161Pro
NM_001258332.2:c.155T>C NP_001245261.1:p.Leu52Pro
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