Canonical Allele Identifier: CA8067104
Gene: MT1A HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56639315C>A
GRCh37 chr16:g.56673227C>A
Revel Score:
ENST00000290705 (MANE Select) 0.111
gnomAD v2:
16:56673227 C / A
gnomAD v3:
16:56639315 C / A
gnomAD v4:
chr16-56639315-C-A
Joint Max Group AF 0.64974966 (MID)
Genomes Max Group AF 0.64621413 (NFE)
Exomes Max Group AF 0.65139325 (MID)
dbSNP:
11640851
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56639315C>A , CM000678.2:g.56639315C>A GRCh38
NC_000016.9:g.56673227C>A , CM000678.1:g.56673227C>A GRCh37
NC_000016.8:g.55230728C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290705.12:c.80C>A MANE Select ENSP00000290705.8:p.Thr27Asn
ENST00000622334.1:c.80C>A ENSP00000478425.1:p.Thr27Asn
NM_005946.2:c.80C>A NP_005937.2:p.Thr27Asn
NM_005946.3:c.80C>A MANE Select NP_005937.2:p.Thr27Asn
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