Canonical Allele Identifier: CA259411
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033709

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647959C>A , CM000671.2:g.34647959C>A GRCh38
NC_000009.11:g.34647956C>A , CM000671.1:g.34647956C>A GRCh37
NC_000009.10:g.34637956C>A NCBI36
NG_009029.1:g.6322C>A
NG_028966.1:g.775C>A
NG_009029.2:g.6371C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*93C>A ENSP00000509954.1:n.*93C>A
ENST00000378842.8:c.505C>A MANE Select ENSP00000368119.4:p.Gln169Lys
ENST00000378842.7:c.505C>A ENSP00000368119.3:p.Gln169Lys
ENST00000450095.6:c.178C>A ENSP00000401956.2:p.Gln60Lys
ENST00000465543.6:n.844C>A
ENST00000472111.5:n.761C>A
ENST00000473506.6:c.*93C>A ENSP00000432839.2:n.*93C>A
ENST00000473529.5:n.641C>A
ENST00000485531.1:n.946C>A
ENST00000487381.5:n.890C>A
ENST00000489643.6:n.283-156C>A
ENST00000554085.5:c.*249C>A ENSP00000450419.1:n.*249C>A
ENST00000554139.5:n.684C>A
ENST00000554550.5:c.*125C>A ENSP00000451435.1:n.*125C>A
ENST00000554638.5:n.977C>A
ENST00000554897.5:c.*125C>A ENSP00000450942.1:n.*125C>A
ENST00000554944.5:n.701C>A
ENST00000555020.5:n.661C>A
ENST00000555086.5:n.509C>A
ENST00000555214.5:n.262-89C>A
ENST00000556244.1:c.492C>A
ENST00000556278.1:c.253-156C>A ENSP00000451792.1:n.253-156C>A
ENST00000556494.5:n.626C>A
ENST00000557706.5:n.1067C>A
NM_000155.3:c.505C>A NP_000146.2:p.Gln169Lys
NM_001258332.1:c.178C>A NP_001245261.1:p.Gln60Lys
NM_000155.4:c.505C>A MANE Select NP_000146.2:p.Gln169Lys
NM_001258332.2:c.178C>A NP_001245261.1:p.Gln60Lys