Canonical Allele Identifier: CA8398031
Community Standard Title: NM_001372.4(DNAH9):c.12047A>G (p.Asn4016Ser)
Gene: DNAH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.11930035A>G , CM000679.2:g.11930035A>G GRCh38
NC_000017.10:g.11833352A>G , CM000679.1:g.11833352A>G GRCh37
NC_000017.9:g.11774077A>G NCBI36
NG_047047.1:g.336605A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001372.4:c.12047A>G MANE Select NP_001363.2:p.Asn4016Ser
ENST00000262442.9:c.12047A>G MANE Select ENSP00000262442.3:p.Asn4016Ser
NM_001372.3:c.12047A>G NP_001363.2:p.Asn4016Ser
NM_004662.2:c.983A>G NP_004653.2:p.Asn328Ser
ENST00000262442.8:c.12047A>G ENSP00000262442.3:p.Asn4016Ser
ENST00000396001.6:n.1510A>G
ENST00000454412.6:c.11878-1979A>G ENSP00000414874.2:n.11878-1979A>G
ENST00000608377.5:c.983A>G ENSP00000476951.1:p.Asn328Ser
XM_011523703.1:c.12047A>G XP_011522005.1:p.Asn4016Ser
XM_011523703.2:c.12047A>G XP_011522005.1:p.Asn4016Ser
XM_017024292.2:c.11930A>G XP_016879781.1:p.Asn3977Ser
XM_017024293.1:c.9929A>G XP_016879782.1:p.Asn3310Ser