Canonical Allele Identifier: CA373284827
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649451T>G , CM000671.2:g.34649451T>G GRCh38
NC_000009.11:g.34649448T>G , CM000671.1:g.34649448T>G GRCh37
NC_000009.10:g.34639448T>G NCBI36
NG_009029.1:g.7814T>G
NG_028966.1:g.2267T>G
NG_009029.2:g.7863T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*534T>G ENSP00000509954.1:n.*534T>G
ENST00000378842.8:c.946T>G MANE Select ENSP00000368119.4:p.Trp316Gly
ENST00000378842.7:c.946T>G ENSP00000368119.3:p.Trp316Gly
ENST00000450095.6:c.619T>G ENSP00000401956.2:p.Trp207Gly
ENST00000488412.2:n.530T>G
ENST00000489643.6:n.1354T>G
ENST00000554550.5:c.*566T>G ENSP00000451435.1:n.*566T>G
ENST00000554638.5:n.1418T>G
ENST00000555020.5:n.1735T>G
ENST00000555754.1:n.394T>G
ENST00000556278.1:c.432+995T>G ENSP00000451792.1:n.432+995T>G
ENST00000557706.5:n.1521T>G
NM_000155.3:c.946T>G NP_000146.2:p.Trp316Gly
NM_001258332.1:c.619T>G NP_001245261.1:p.Trp207Gly
NM_000155.4:c.946T>G MANE Select NP_000146.2:p.Trp316Gly
NM_001258332.2:c.619T>G NP_001245261.1:p.Trp207Gly