Canonical Allele Identifier: CA11679190
Gene: TRMT44 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.8501632A>G
GRCh37 chr4:g.8503359A>G
gnomAD v2:
4:8503359 A / G
gnomAD v3:
4:8501632 A / G
gnomAD v4:
chr4-8501632-A-G
Joint Max Group AF 0.84952686 (AFR)
Genomes Max Group AF 0.84952686 (AFR)
dbSNP:
1949733
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.8501632A>G , CM000666.2:g.8501632A>G GRCh38
NC_000004.11:g.8503359A>G , CM000666.1:g.8503359A>G GRCh37
NC_000004.10:g.8554259A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_006713862.2:c.2045-7166A>G XP_006713925.1:n.2045-7166A>G
XR_427468.2:n.2086-7166A>G
XR_924914.1:n.2086-7166A>G
XR_924915.1:n.2086-7166A>G
XR_924916.1:n.2086-7166A>G
XR_001741149.1:n.2091-7166A>G
XR_001741150.2:n.2232-7166A>G
XR_427468.3:n.2091-7166A>G
XR_924916.2:n.2091-7166A>G
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