Canonical Allele Identifier: CA2608432122
Gene: MRC1 HGNC NCBI

Linked Data

gnomAD v4: 10-17849912-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849912G>A , CM000672.2:g.17849912G>A GRCh38
NG_047011.1:g.45570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1249+148G>A MANE Select ENSP00000455897.1:n.1249+148G>A
ENST00000569591.2:c.1249+148G>A ENSP00000455897.1:n.1249+148G>A
NM_002438.3:c.1249+148G>A NP_002429.1:n.1249+148G>A
NM_002438.4:c.1249+148G>A MANE Select NP_002429.1:n.1249+148G>A
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