Canonical Allele Identifier: CA8397655
Community Standard Title: NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met)
Gene: DNAH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.11883632C>T , CM000679.2:g.11883632C>T GRCh38
NC_000017.10:g.11786949C>T , CM000679.1:g.11786949C>T GRCh37
NC_000017.9:g.11727674C>T NCBI36
NG_047047.1:g.290202C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001372.4:c.10853C>T MANE Select NP_001363.2:p.Thr3618Met
ENST00000262442.9:c.10853C>T MANE Select ENSP00000262442.3:p.Thr3618Met
NM_001372.3:c.10853C>T NP_001363.2:p.Thr3618Met
NM_004662.2:c.-212C>T NP_004653.2:n.-212C>T
ENST00000262442.8:c.10853C>T ENSP00000262442.3:p.Thr3618Met
ENST00000396001.6:n.316C>T
ENST00000454412.6:c.10853C>T ENSP00000414874.2:p.Thr3618Met
ENST00000608377.5:c.-212C>T ENSP00000476951.1:n.-212C>T
XM_011523703.1:c.10853C>T XP_011522005.1:p.Thr3618Met
XM_011523703.2:c.10853C>T XP_011522005.1:p.Thr3618Met
XM_017024292.2:c.10736C>T XP_016879781.1:p.Thr3579Met
XM_017024293.1:c.8735C>T XP_016879782.1:p.Thr2912Met