Canonical Allele Identifier: CA372172826
Community Standard Title: NM_005005.3(NDUFB9):c.215G>T (p.Trp72Leu)
Gene: NDUFB9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.124543200G>T , CM000670.2:g.124543200G>T GRCh38
NC_000008.10:g.125555441G>T , CM000670.1:g.125555441G>T GRCh37
NC_000008.9:g.125624622G>T NCBI36
NG_042266.1:g.9099G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005005.3:c.215G>T MANE Select NP_004996.1:p.Trp72Leu
ENST00000276689.8:c.215G>T MANE Select ENSP00000276689.3:p.Trp72Leu
NM_001278645.1:c.47G>T NP_001265574.1:p.Trp16Leu
NM_001278645.2:c.47G>T NP_001265574.1:p.Trp16Leu
NM_001278646.1:c.86G>T NP_001265575.1:p.Trp29Leu
NM_001278646.2:c.86G>T NP_001265575.1:p.Trp29Leu
NM_001311168.1:c.182G>T NP_001298097.1:p.Trp61Leu
NM_001311168.2:c.182G>T NP_001298097.1:p.Trp61Leu
NM_005005.2:c.215G>T NP_004996.1:p.Trp72Leu
ENST00000276689.7:c.215G>T ENSP00000276689.3:p.Trp72Leu
ENST00000517367.1:c.182G>T ENSP00000430322.1:p.Trp61Leu
ENST00000518008.5:c.215G>T ENSP00000428282.1:p.Trp72Leu
ENST00000518657.5:n.261G>T
ENST00000518657.6:n.1295G>T
ENST00000522532.5:c.215G>T ENSP00000431115.1:p.Trp72Leu
ENST00000522532.6:c.215G>T ENSP00000431115.1:p.Trp72Leu
ENST00000524241.2:n.240G>T
ENST00000606244.2:c.215G>T ENSP00000497750.1:p.Trp72Leu
ENST00000676713.1:c.*69G>T ENSP00000504795.1:n.*69G>T
ENST00000677021.1:c.215G>T ENSP00000504235.1:p.Trp72Leu
ENST00000677782.1:n.234G>T
ENST00000677822.1:c.215G>T ENSP00000504813.1:p.Trp72Leu
ENST00000677950.1:c.*69G>T ENSP00000504071.1:n.*69G>T