Canonical Allele Identifier: CA8067143
Gene: MT1A HGNC NCBI

Linked Data

dbSNP Id: rs8052394
ExAC: 16:56673828 A / G
gnomAD v2: 16-56673828-A-G
gnomAD v3: 16-56639916-A-G
gnomAD v4: 16-56639916-A-G
MyVariant Identifiers: chr16:g.56673828A>G (hg19) chr16:g.56639916A>G (hg38)
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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'