Canonical Allele Identifier: CA376196265
Gene: MRC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.17849678T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849678T>C , CM000672.2:g.17849678T>C GRCh38
NG_047011.1:g.45336T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1163T>C MANE Select ENSP00000455897.1:p.Leu388Pro
ENST00000569591.2:c.1163T>C ENSP00000455897.1:p.Leu388Pro
NM_002438.3:c.1163T>C NP_002429.1:p.Leu388Pro
NM_002438.4:c.1163T>C MANE Select NP_002429.1:p.Leu388Pro