Canonical Allele Identifier: CA376196661
Gene: MRC1 HGNC NCBI

Linked Data

dbSNP Id: rs1429346999
gnomAD v3: 10-17849750-C-T
gnomAD v4: 10-17849750-C-T
MyVariant Identifiers: chr10:g.17849750C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849750C>T , CM000672.2:g.17849750C>T GRCh38
NG_047011.1:g.45408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1235C>T MANE Select ENSP00000455897.1:p.Ser412Phe
ENST00000569591.2:c.1235C>T ENSP00000455897.1:p.Ser412Phe
NM_002438.3:c.1235C>T NP_002429.1:p.Ser412Phe
NM_002438.4:c.1235C>T MANE Select NP_002429.1:p.Ser412Phe
Search 100 bp 5'
Search 100 bp 3'