Canonical Allele Identifier: CA338684640
Community Standard Title: NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys)
Gene: NMNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9975682T>A , CM000663.2:g.9975682T>A GRCh38
NC_000001.10:g.10035740T>A , CM000663.1:g.10035740T>A GRCh37
NC_000001.9:g.9958327T>A NCBI36
NG_032954.1:g.37255T>A

Transcript Alleles

HGVS Amino-acid Change
NM_022787.4:c.206T>A MANE Select NP_073624.2:p.Met69Lys
ENST00000377205.6:c.206T>A MANE Select ENSP00000366410.1:p.Met69Lys
NM_001297778.1:c.206T>A NP_001284707.1:p.Met69Lys
NM_001297779.1:c.206T>A NP_001284708.1:p.Met69Lys
NM_001297779.2:c.206T>A NP_001284708.1:p.Met69Lys
NM_022787.3:c.206T>A NP_073624.2:p.Met69Lys
ENST00000377205.5:c.206T>A ENSP00000366410.1:p.Met69Lys
ENST00000403197.5:c.206T>A ENSP00000385131.1:p.Met69Lys
ENST00000462686.1:c.206T>A ENSP00000435134.1:p.Met69Lys
XM_011541971.1:c.206T>A XP_011540273.1:p.Met69Lys
XM_011541971.2:c.206T>A XP_011540273.1:p.Met69Lys
XM_017002107.2:c.206T>A XP_016857596.1:p.Met69Lys
XM_017002108.2:c.206T>A XP_016857597.1:p.Met69Lys