Canonical Allele Identifier: CA8067143
Gene: MT1A HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56639916A>G
GRCh37 chr16:g.56673828A>G
Revel Score:
ENST00000290705 (MANE Select) 0.122
gnomAD v2:
16:56673828 A / G
gnomAD v3:
16:56639916 A / G
gnomAD v4:
chr16-56639916-A-G
Joint Max Group AF 0.21489323 (EAS)
Genomes Max Group AF 0.22027238 (EAS)
Exomes Max Group AF 0.21303228 (EAS)
dbSNP:
8052394
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56639916A>G , CM000678.2:g.56639916A>G GRCh38
NC_000016.9:g.56673828A>G , CM000678.1:g.56673828A>G GRCh37
NC_000016.8:g.55231329A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290705.12:c.152A>G MANE Select ENSP00000290705.8:p.Lys51Arg
ENST00000622334.1:c.152A>G ENSP00000478425.1:p.Lys51Arg
NM_005946.2:c.152A>G NP_005937.2:p.Lys51Arg
NM_005946.3:c.152A>G MANE Select NP_005937.2:p.Lys51Arg
Search 100 bp 5'
Search 100 bp 3'