Canonical Allele Identifier: CA2786817890
Gene: MRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849852T>A , CM000672.2:g.17849852T>A GRCh38
NG_047011.1:g.45510T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1249+88T>A MANE Select ENSP00000455897.1:n.1249+88T>A
ENST00000569591.2:c.1249+88T>A ENSP00000455897.1:n.1249+88T>A
NM_002438.3:c.1249+88T>A NP_002429.1:n.1249+88T>A
NM_002438.4:c.1249+88T>A MANE Select NP_002429.1:n.1249+88T>A