Canonical Allele Identifier: CA259581
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033821

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649620C>T , CM000671.2:g.34649620C>T GRCh38
NC_000009.11:g.34649617C>T , CM000671.1:g.34649617C>T GRCh37
NC_000009.10:g.34639617C>T NCBI36
NG_009029.1:g.7983C>T
NG_028966.1:g.2436C>T
NG_009029.2:g.8032C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*647+56C>T ENSP00000509954.1:n.*647+56C>T
ENST00000378842.8:c.1059+56C>T MANE Select ENSP00000368119.4:n.1059+56C>T
ENST00000378842.7:c.1059+56C>T ENSP00000368119.3:n.1059+56C>T
ENST00000450095.6:c.732+56C>T ENSP00000401956.2:n.732+56C>T
ENST00000488412.2:n.643+56C>T
ENST00000489643.6:n.1523C>T
ENST00000554550.5:c.*679+56C>T ENSP00000451435.1:n.*679+56C>T
ENST00000554638.5:n.1531+56C>T
ENST00000555020.5:n.1904C>T
ENST00000555754.1:n.507+56C>T
ENST00000556278.1:c.432+1164C>T ENSP00000451792.1:n.432+1164C>T
ENST00000557706.5:n.1634+56C>T
NM_000155.3:c.1059+56C>T NP_000146.2:n.1059+56C>T
NM_001258332.1:c.732+56C>T NP_001245261.1:n.732+56C>T
NM_000155.4:c.1059+56C>T MANE Select NP_000146.2:n.1059+56C>T
NM_001258332.2:c.732+56C>T NP_001245261.1:n.732+56C>T