Canonical Allele Identifier: CA5428170
Gene: MRC1 HGNC NCBI

Linked Data

dbSNP Id: rs781920426
gnomAD v3: 10-17849674-G-T
gnomAD v4: 10-17849674-G-T
MyVariant Identifiers: chr10:g.17849674G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849674G>T , CM000672.2:g.17849674G>T GRCh38
NG_047011.1:g.45332G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1159G>T MANE Select ENSP00000455897.1:p.Ala387Ser
ENST00000569591.2:c.1159G>T ENSP00000455897.1:p.Ala387Ser
NM_002438.3:c.1159G>T NP_002429.1:p.Ala387Ser
NM_002438.4:c.1159G>T MANE Select NP_002429.1:p.Ala387Ser
Search 100 bp 5'
Search 100 bp 3'