Canonical Allele Identifier: CA402807160
Gene: GALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268586C>G , CM000680.2:g.77268586C>G GRCh38
NC_000018.9:g.74980542C>G , CM000680.1:g.74980542C>G GRCh37
NC_000018.8:g.73109530C>G NCBI36
NG_009223.1:g.23535C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.734C>G MANE Select ENSP00000299727.3:p.Thr245Ser
ENST00000299727.4:c.734C>G ENSP00000299727.3:p.Thr245Ser
NM_001480.3:c.734C>G NP_001471.2:p.Thr245Ser
NM_001480.4:c.734C>G MANE Select NP_001471.2:p.Thr245Ser