Canonical Allele Identifier: CA3712243
Gene: MICA HGNC NCBI
COSMIC:
COSM3761880 (not active)
MyVariant.info:
GRCh38 chr6:g.31412154G>A
GRCh37 chr6:g.31379931G>A
Revel Score:
ENST00000376222 0.008
ENST00000364810 0.008
ENST00000399172 0.008
ENST00000449934 (MANE Select) 0.008
ENST00000421350 0.008
gnomAD v2:
6:31379931 G / A
gnomAD v3:
6:31412154 G / A
gnomAD v4:
chr6-31412154-G-A
Joint Max Group AF 0.69629103 (AFR)
Genomes Max Group AF 0.68628244 (AFR)
Exomes Max Group AF 0.704008 (AFR)
ClinVar RCV:
RCV000455790
ClinVar Variation:
403085
dbSNP:
1063635
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31412154G>A , CM000668.2:g.31412154G>A GRCh38
NC_000006.11:g.31379931G>A , CM000668.1:g.31379931G>A GRCh37
NC_000006.10:g.31487910G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449934.7:c.821G>A MANE Select ENSP00000413079.1:p.Arg274Gln
ENST00000674069.1:c.407G>A ENSP00000501157.1:p.Arg136Gln
ENST00000421350.1:c.494G>A ENSP00000402410.1:p.Arg165Gln
ENST00000449934.6:c.821G>A ENSP00000413079.1:p.Arg274Gln
ENST00000616296.4:c.530G>A ENSP00000482382.1:p.Arg177Gln
NM_001177519.2:c.821G>A NP_001170990.1:p.Arg274Gln
NM_001289152.1:c.530G>A NP_001276081.1:p.Arg177Gln
NM_001289153.1:c.530G>A NP_001276082.1:p.Arg177Gln
NM_001289154.1:c.407G>A NP_001276083.1:p.Arg136Gln
NM_001177519.3:c.821G>A MANE Select NP_001170990.1:p.Arg274Gln
NM_001289152.2:c.530G>A NP_001276081.1:p.Arg177Gln
NM_001289153.2:c.530G>A NP_001276082.1:p.Arg177Gln
NM_001289154.2:c.407G>A NP_001276083.1:p.Arg136Gln
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