Canonical Allele Identifier: CA259383
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25170
dbSNP Id: rs367543256
gnomAD v2: 9-34647847-C-A
gnomAD v3: 9-34647850-C-A
gnomAD v4: 9-34647850-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647850C>A , CM000671.2:g.34647850C>A GRCh38
NC_000009.11:g.34647847C>A , CM000671.1:g.34647847C>A GRCh37
NC_000009.10:g.34637847C>A NCBI36
NG_009029.1:g.6213C>A
NG_028966.1:g.666C>A
NG_009029.2:g.6262C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.347C>A ENSP00000509954.1:p.Thr116Asn
ENST00000378842.8:c.396C>A MANE Select ENSP00000368119.4:p.His132Gln
ENST00000378842.7:c.396C>A ENSP00000368119.3:p.His132Gln
ENST00000450095.6:c.69C>A ENSP00000401956.2:p.His23Gln
ENST00000465543.6:n.735C>A
ENST00000472111.5:n.652C>A
ENST00000473506.6:c.347C>A ENSP00000432839.2:p.Thr116Asn
ENST00000473529.5:n.532C>A
ENST00000485531.1:n.837C>A
ENST00000487381.5:n.781C>A
ENST00000489643.6:n.283-265C>A
ENST00000554085.5:c.*140C>A ENSP00000450419.1:n.*140C>A
ENST00000554139.5:n.575C>A
ENST00000554550.5:c.*16C>A ENSP00000451435.1:n.*16C>A
ENST00000554638.5:n.868C>A
ENST00000554897.5:c.*16C>A ENSP00000450942.1:n.*16C>A
ENST00000554944.5:n.592C>A
ENST00000555020.5:n.552C>A
ENST00000555086.5:n.400C>A
ENST00000555214.5:n.262-198C>A
ENST00000556244.1:c.383C>A
ENST00000556278.1:c.253-265C>A ENSP00000451792.1:n.253-265C>A
ENST00000556494.5:n.517C>A
ENST00000557541.5:n.540C>A
ENST00000557706.5:n.958C>A
NM_000155.3:c.396C>A NP_000146.2:p.His132Gln
NM_001258332.1:c.69C>A NP_001245261.1:p.His23Gln
NM_000155.4:c.396C>A MANE Select NP_000146.2:p.His132Gln
NM_001258332.2:c.69C>A NP_001245261.1:p.His23Gln