Canonical Allele Identifier: CA468508619
Gene: MRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849751C>A , CM000672.2:g.17849751C>A GRCh38
NG_047011.1:g.45409C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1236C>A MANE Select ENSP00000455897.1:p.Ser412=
ENST00000569591.2:c.1236C>A ENSP00000455897.1:p.Ser412=
NM_002438.3:c.1236C>A NP_002429.1:p.Ser412=
NM_002438.4:c.1236C>A MANE Select NP_002429.1:p.Ser412=