Canonical Allele Identifier: CA8394468
Community Standard Title: NM_001372.4(DNAH9):c.238G>T (p.Gly80Cys)
Gene: DNAH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.11598736G>T , CM000679.2:g.11598736G>T GRCh38
NC_000017.10:g.11502053G>T , CM000679.1:g.11502053G>T GRCh37
NC_000017.9:g.11442778G>T NCBI36
NG_047047.1:g.5306G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001372.4:c.238G>T MANE Select NP_001363.2:p.Gly80Cys
ENST00000262442.9:c.238G>T MANE Select ENSP00000262442.3:p.Gly80Cys
NM_001372.3:c.238G>T NP_001363.2:p.Gly80Cys
ENST00000262442.8:c.238G>T ENSP00000262442.3:p.Gly80Cys
ENST00000454412.6:c.238G>T ENSP00000414874.2:p.Gly80Cys
ENST00000579406.1:n.265G>T
ENST00000579828.5:c.238G>T ENSP00000463782.1:p.Gly80Cys
XM_011523703.1:c.238G>T XP_011522005.1:p.Gly80Cys
XM_011523703.2:c.238G>T XP_011522005.1:p.Gly80Cys
XM_017024292.2:c.238G>T XP_016879781.1:p.Gly80Cys
XM_017024294.2:c.238G>T XP_016879783.1:p.Gly80Cys
XM_017024295.2:c.238G>T XP_016879784.1:p.Gly80Cys