Canonical Allele Identifier: CA662490631
Gene: MRC1 HGNC NCBI

Linked Data

dbSNP Id: rs1168187059
gnomAD v3: 10-17849953-G-T
gnomAD v4: 10-17849953-G-T
MyVariant Identifiers: chr10:g.17849953G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849953G>T , CM000672.2:g.17849953G>T GRCh38
NG_047011.1:g.45611G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1249+189G>T MANE Select ENSP00000455897.1:n.1249+189G>T
ENST00000569591.2:c.1249+189G>T ENSP00000455897.1:n.1249+189G>T
NM_002438.3:c.1249+189G>T NP_002429.1:n.1249+189G>T
NM_002438.4:c.1249+189G>T MANE Select NP_002429.1:n.1249+189G>T
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