Canonical Allele Identifier: CA402807143
Gene: GALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268583A>C , CM000680.2:g.77268583A>C GRCh38
NC_000018.9:g.74980539A>C , CM000680.1:g.74980539A>C GRCh37
NC_000018.8:g.73109527A>C NCBI36
NG_009223.1:g.23532A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-2A>C MANE Select ENSP00000299727.3:n.733-2A>C
ENST00000299727.4:c.733-2A>C ENSP00000299727.3:n.733-2A>C
NM_001480.3:c.733-2A>C NP_001471.2:n.733-2A>C
NM_001480.4:c.733-2A>C MANE Select NP_001471.2:n.733-2A>C