Canonical Allele Identifier: CA376196487
Gene: MRC1 HGNC NCBI

Linked Data

dbSNP Id: rs1838884875
gnomAD v3: 10-17849718-C-G
gnomAD v4: 10-17849718-C-G
MyVariant Identifiers: chr10:g.17849718C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849718C>G , CM000672.2:g.17849718C>G GRCh38
NG_047011.1:g.45376C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1203C>G MANE Select ENSP00000455897.1:p.Ile401Met
ENST00000569591.2:c.1203C>G ENSP00000455897.1:p.Ile401Met
NM_002438.3:c.1203C>G NP_002429.1:p.Ile401Met
NM_002438.4:c.1203C>G MANE Select NP_002429.1:p.Ile401Met
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Search 100 bp 3'