Canonical Allele Identifier: CA468508519
Gene: MRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849631C>T , CM000672.2:g.17849631C>T GRCh38
NG_047011.1:g.45289C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1116C>T MANE Select ENSP00000455897.1:p.His372=
ENST00000569591.2:c.1116C>T ENSP00000455897.1:p.His372=
NM_002438.3:c.1116C>T NP_002429.1:p.His372=
NM_002438.4:c.1116C>T MANE Select NP_002429.1:p.His372=