Canonical Allele Identifier: CA5428187
Gene: MRC1 HGNC NCBI

Linked Data

gnomAD v4: 10-17849711-C-T
MyVariant Identifiers: chr10:g.17849711C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849711C>T , CM000672.2:g.17849711C>T GRCh38
NG_047011.1:g.45369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1196C>T MANE Select ENSP00000455897.1:p.Thr399Ile
ENST00000569591.2:c.1196C>T ENSP00000455897.1:p.Thr399Ile
NM_002438.3:c.1196C>T NP_002429.1:p.Thr399Ile
NM_002438.4:c.1196C>T MANE Select NP_002429.1:p.Thr399Ile
Search 100 bp 5'
Search 100 bp 3'