Canonical Allele Identifier: CA2786817889
Gene: MRC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849846T>C , CM000672.2:g.17849846T>C GRCh38
NG_047011.1:g.45504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1249+82T>C MANE Select ENSP00000455897.1:n.1249+82T>C
ENST00000569591.2:c.1249+82T>C ENSP00000455897.1:n.1249+82T>C
NM_002438.3:c.1249+82T>C NP_002429.1:n.1249+82T>C
NM_002438.4:c.1249+82T>C MANE Select NP_002429.1:n.1249+82T>C
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