Canonical Allele Identifier: CA12627058
Gene: UMAD1 HGNC NCBI
GLCCI1-DT HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.7967878T>C
GRCh37 chr7:g.8007509T>C
gnomAD v2:
7:8007509 T / C
gnomAD v3:
7:7967878 T / C
gnomAD v4:
chr7-7967878-T-C
Joint Max Group AF 0.78227358 (AFR)
Genomes Max Group AF 0.78170195 (AFR)
Exomes Max Group AF 0.77182934 (AFR)
dbSNP:
37972
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7967878T>C , CM000669.2:g.7967878T>C GRCh38
NC_000007.13:g.8007509T>C , CM000669.1:g.8007509T>C GRCh37
NC_000007.12:g.7974034T>C NCBI36
NG_032073.1:g.4136T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482067.3:n.427T>C (UMAD1)
NR_110018.1:n.209+666A>G (GLCCI1-DT)
XR_927011.1:n.218T>C
XR_927012.1:n.624T>C
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