Canonical Allele Identifier: CA3164300
Gene: MTNR1A HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186534245C>T
GRCh37 chr4:g.187455399C>T
Revel Score:
ENST00000307161 (MANE Select) 0.297
gnomAD v2:
4:187455399 C / T
gnomAD v3:
4:186534245 C / T
gnomAD v4:
chr4-186534245-C-T
Joint Max Group AF 0.01589183 (NFE)
Genomes Max Group AF 0.01411043 (NFE)
Exomes Max Group AF 0.01596006 (NFE)
dbSNP:
28383653
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186534245C>T , CM000666.2:g.186534245C>T GRCh38
NC_000004.11:g.187455399C>T , CM000666.1:g.187455399C>T GRCh37
NC_000004.10:g.187692393C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000703170.1:c.497G>A ENSP00000515216.1:p.Gly166Glu
ENST00000307161.5:c.497G>A MANE Select ENSP00000302811.5:p.Gly166Glu
ENST00000509111.2:c.147+20937G>A
NM_005958.3:c.497G>A NP_005949.1:p.Gly166Glu
XM_011532002.1:c.242G>A XP_011530304.1:p.Gly81Glu
XR_939589.1:n.1982-11399C>T
XR_939590.1:n.162-11399C>T
NM_005958.4:c.497G>A MANE Select NP_005949.1:p.Gly166Glu
XM_011532002.3:c.242G>A XP_011530304.1:p.Gly81Glu
XR_939589.2:n.1982-11399C>T
XR_939590.2:n.162-11399C>T
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