Canonical Allele Identifier: CA259372
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033673
MyVariant Identifiers: chr9:g.34647679A>C (hg19) chr9:g.34647682A>C (hg38)
PubMed: PMID:11261429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647682A>C , CM000671.2:g.34647682A>C GRCh38
NC_000009.11:g.34647679A>C , CM000671.1:g.34647679A>C GRCh37
NC_000009.10:g.34637679A>C NCBI36
NG_009029.1:g.6045A>C
NG_028966.1:g.498A>C
NG_009029.2:g.6094A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+115A>C ENSP00000509954.1:n.328+115A>C
ENST00000378842.8:c.354A>C MANE Select ENSP00000368119.4:p.Gln118His
ENST00000378842.7:c.354A>C ENSP00000368119.3:p.Gln118His
ENST00000450095.6:c.51-150A>C ENSP00000401956.2:n.51-150A>C
ENST00000465543.6:n.693A>C
ENST00000472111.5:n.484A>C
ENST00000473506.6:c.305A>C ENSP00000432839.2:p.Lys102Thr
ENST00000473529.5:n.490A>C
ENST00000485531.1:n.669A>C
ENST00000487381.5:n.613A>C
ENST00000489643.6:n.282+424A>C
ENST00000554085.5:c.*98A>C ENSP00000450419.1:n.*98A>C
ENST00000554139.5:n.407A>C
ENST00000554330.5:n.391A>C
ENST00000554550.5:c.253-150A>C ENSP00000451435.1:n.253-150A>C
ENST00000554638.5:n.700A>C
ENST00000554897.5:c.253-150A>C ENSP00000450942.1:n.253-150A>C
ENST00000554944.5:n.424A>C
ENST00000555020.5:n.384A>C
ENST00000555086.5:n.358A>C
ENST00000555214.5:n.262-366A>C
ENST00000556157.1:n.478A>C
ENST00000556244.1:c.341A>C
ENST00000556278.1:c.252+424A>C ENSP00000451792.1:n.252+424A>C
ENST00000556403.5:n.456A>C
ENST00000556494.5:n.475A>C
ENST00000557541.5:n.498A>C
ENST00000557706.5:n.790A>C
NM_000155.3:c.354A>C NP_000146.2:p.Gln118His
NM_001258332.1:c.51-150A>C NP_001245261.1:n.51-150A>C
NM_000155.4:c.354A>C MANE Select NP_000146.2:p.Gln118His
NM_001258332.2:c.51-150A>C NP_001245261.1:n.51-150A>C
Search 100 bp 5'
Search 100 bp 3'