Canonical Allele Identifier: CA376196233
Gene: MRC1 HGNC NCBI

Linked Data

dbSNP Id: rs1838883554
MyVariant Identifiers: chr10:g.17849671G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849671G>C , CM000672.2:g.17849671G>C GRCh38
NG_047011.1:g.45329G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1156G>C MANE Select ENSP00000455897.1:p.Asp386His
ENST00000569591.2:c.1156G>C ENSP00000455897.1:p.Asp386His
NM_002438.3:c.1156G>C NP_002429.1:p.Asp386His
NM_002438.4:c.1156G>C MANE Select NP_002429.1:p.Asp386His