Canonical Allele Identifier: CA6515667
Gene: MUC19 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.40464141A>C
GRCh37 chr12:g.40857943A>C
Revel Score:
ENST00000425730 0.018
gnomAD v2:
12:40857943 A / C
gnomAD v3:
12:40464141 A / C
gnomAD v4:
chr12-40464141-A-C
Joint Max Group AF 0.82109296 (SAS)
Genomes Max Group AF 0.8201431 (SAS)
Exomes Max Group AF 0.81995901 (SAS)
dbSNP:
2933353
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40464141A>C , CM000674.2:g.40464141A>C GRCh38
NC_000012.11:g.40857943A>C , CM000674.1:g.40857943A>C GRCh37
NC_000012.10:g.39144210A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454784.10:c.5285A>C ENSP00000508949.1:p.Glu1762Ala
ENST00000454784.9:n.5331A>C
NM_173600.2:c.5285A>C NP_775871.2:p.Glu1762Ala
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