Canonical Allele Identifier: CA5428567
Gene: MRC1 HGNC NCBI

Linked Data

dbSNP Id: rs71497225
MyVariant Identifiers: chr10:g.17849736G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849736G>A , CM000672.2:g.17849736G>A GRCh38
NG_047011.1:g.45394G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1221G>A MANE Select ENSP00000455897.1:p.Leu407=
ENST00000569591.2:c.1221G>A ENSP00000455897.1:p.Leu407=
NM_002438.3:c.1221G>A NP_002429.1:p.Leu407=
NM_002438.4:c.1221G>A MANE Select NP_002429.1:p.Leu407=