Canonical Allele Identifier: CA2786817885
Gene: MRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849779A>C , CM000672.2:g.17849779A>C GRCh38
NG_047011.1:g.45437A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1249+15A>C MANE Select ENSP00000455897.1:n.1249+15A>C
ENST00000569591.2:c.1249+15A>C ENSP00000455897.1:n.1249+15A>C
NM_002438.3:c.1249+15A>C NP_002429.1:n.1249+15A>C
NM_002438.4:c.1249+15A>C MANE Select NP_002429.1:n.1249+15A>C