Canonical Allele Identifier: CA8037242
Community Standard Title: NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
Gene: ORC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46689707T>C , CM000678.2:g.46689707T>C GRCh38
NC_000016.9:g.46723619T>C , CM000678.1:g.46723619T>C GRCh37
NC_000016.8:g.45281120T>C NCBI36
NG_028241.1:g.5062T>C
NG_029970.1:g.4526A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014321.4:c.2T>C MANE Select NP_055136.1:p.Met1Thr
ENST00000219097.7:c.2T>C MANE Select ENSP00000219097.2:p.Met1Thr
NM_014321.3:c.2T>C NP_055136.1:p.Met1Thr
NR_037620.1:n.62T>C
NR_037620.2:n.49T>C
ENST00000219097.6:c.2T>C ENSP00000219097.2:p.Met1Thr
ENST00000563306.5:n.26T>C
ENST00000563599.5:c.2T>C ENSP00000454299.1:p.Met1Thr
ENST00000568364.6:c.2T>C ENSP00000457282.2:p.Met1Thr
ENST00000569239.5:n.49T>C
ENST00000570260.2:n.1T>C
XM_011522978.1:c.2T>C XP_011521280.1:p.Met1Thr
XM_011522978.3:c.2T>C XP_011521280.1:p.Met1Thr