Canonical Allele Identifier: CA8398310

Gene: DNAH9 ZNF18

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11961948C>T , CM000679.2:g.11961948C>T	GRCh38
NC_000017.10:g.11865265C>T , CM000679.1:g.11865265C>T	GRCh37
NC_000017.9:g.11805990C>T	NCBI36
NG_047047.1:g.368518C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.12925C>T (DNAH9) MANE Select	NP_001363.2:p.Arg4309Ter
ENST00000262442.9:c.12925C>T (DNAH9) MANE Select	ENSP00000262442.3:p.Arg4309Ter
NM_001372.3:c.12925C>T (DNAH9)	NP_001363.2:p.Arg4309Ter
NM_004662.2:c.1861C>T (DNAH9)	NP_004653.2:p.Arg621Ter
ENST00000262442.8:c.12925C>T (DNAH9)	ENSP00000262442.3:p.Arg4309Ter
ENST00000396001.6:n.2388C>T (DNAH9)
ENST00000454412.6:c.12697C>T (DNAH9)	ENSP00000414874.2:p.Arg4233Ter
ENST00000608377.5:c.1861C>T (DNAH9)	ENSP00000476951.1:p.Arg621Ter
XM_011523703.1:c.12970C>T (DNAH9)	XP_011522005.1:p.Arg4324Ter
XM_011523703.2:c.12970C>T (DNAH9)	XP_011522005.1:p.Arg4324Ter
XM_011524002.3:c.*710-3219G>A (ZNF18)	XP_011522304.1:n.*710-3219G>A
XM_017024292.2:c.12853C>T (DNAH9)	XP_016879781.1:p.Arg4285Ter
XM_017024293.1:c.10852C>T (DNAH9)	XP_016879782.1:p.Arg3618Ter
XM_017025006.2:c.*710-3219G>A (ZNF18)	XP_016880495.1:n.*710-3219G>A
XM_017025007.2:c.*710-3219G>A (ZNF18)	XP_016880496.1:n.*710-3219G>A
XM_017025008.2:c.*710-3219G>A (ZNF18)	XP_016880497.1:n.*710-3219G>A
XM_017025010.2:c.*710-3219G>A (ZNF18)	XP_016880499.1:n.*710-3219G>A
XM_017025011.2:c.*710-3219G>A (ZNF18)	XP_016880500.1:n.*710-3219G>A
XM_024450909.1:c.*710-3219G>A (ZNF18)	XP_024306677.1:n.*710-3219G>A
XM_024450910.1:c.*710-3219G>A (ZNF18)	XP_024306678.1:n.*710-3219G>A
XM_024450911.1:c.*710-3219G>A (ZNF18)	XP_024306679.1:n.*710-3219G>A
XM_024450913.1:c.*710-3219G>A (ZNF18)	XP_024306681.1:n.*710-3219G>A