Canonical Allele Identifier: CA259448
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033730
MyVariant Identifiers: chr9:g.34648361G>A (hg19) chr9:g.34648364G>A (hg38)
PubMed: PMID:10408771
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648364G>A , CM000671.2:g.34648364G>A GRCh38
NC_000009.11:g.34648361G>A , CM000671.1:g.34648361G>A GRCh37
NC_000009.10:g.34638361G>A NCBI36
NG_009029.1:g.6727G>A
NG_028966.1:g.1180G>A
NG_009029.2:g.6776G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*183G>A ENSP00000509954.1:n.*183G>A
ENST00000378842.8:c.595G>A MANE Select ENSP00000368119.4:p.Ala199Thr
ENST00000378842.7:c.595G>A ENSP00000368119.3:p.Ala199Thr
ENST00000450095.6:c.268G>A ENSP00000401956.2:p.Ala90Thr
ENST00000472111.5:n.851G>A
ENST00000473506.6:c.*183G>A ENSP00000432839.2:n.*183G>A
ENST00000473529.5:n.754G>A
ENST00000485531.1:n.1189G>A
ENST00000487381.5:n.980G>A
ENST00000489643.6:n.370G>A
ENST00000554085.5:c.*339G>A ENSP00000450419.1:n.*339G>A
ENST00000554139.5:n.841G>A
ENST00000554550.5:c.*215G>A ENSP00000451435.1:n.*215G>A
ENST00000554638.5:n.1067G>A
ENST00000554897.5:c.*282G>A ENSP00000450942.1:n.*282G>A
ENST00000554944.5:n.944G>A
ENST00000555020.5:n.751G>A
ENST00000555086.5:n.599G>A
ENST00000555214.5:n.416G>A
ENST00000556244.1:c.582G>A
ENST00000556278.1:c.340G>A ENSP00000451792.1:p.Ala114Thr
ENST00000556494.5:n.716G>A
ENST00000557706.5:n.1157G>A
NM_000155.3:c.595G>A NP_000146.2:p.Ala199Thr
NM_001258332.1:c.268G>A NP_001245261.1:p.Ala90Thr
NM_000155.4:c.595G>A MANE Select NP_000146.2:p.Ala199Thr
NM_001258332.2:c.268G>A NP_001245261.1:p.Ala90Thr
Search 100 bp 5'
Search 100 bp 3'