Canonical Allele Identifier: CA3203323

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13823291G>A , CM000667.2:g.13823291G>A	GRCh38
NC_000005.9:g.13823400G>A , CM000667.1:g.13823400G>A	GRCh37
NC_000005.8:g.13876400G>A	NCBI36
NG_013081.1:g.126190C>T
NG_013081.2:g.126190C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6659C>T MANE Select	NP_001360.1:p.Pro2220Leu
ENST00000265104.5:c.6659C>T MANE Select	ENSP00000265104.4:p.Pro2220Leu
NM_001369.2:c.6659C>T	NP_001360.1:p.Pro2220Leu
ENST00000265104.4:c.6659C>T	ENSP00000265104.4:p.Pro2220Leu
ENST00000681290.1:c.6614C>T	ENSP00000505288.1:p.Pro2205Leu
ENST00000683090.1:n.1590C>T
XM_005248262.2:c.6614C>T	XP_005248319.1:p.Pro2205Leu
XM_005248262.3:c.6767C>T	XP_005248319.2:p.Pro2256Leu
XM_011513990.1:c.6659C>T	XP_011512292.1:p.Pro2220Leu
XM_017009177.1:c.6767C>T	XP_016864666.1:p.Pro2256Leu
XM_017009178.1:c.5672C>T	XP_016864667.1:p.Pro1891Leu
XM_017009179.2:c.5672C>T	XP_016864668.1:p.Pro1891Leu
XM_017009180.1:c.6767C>T	XP_016864669.1:p.Pro2256Leu
XM_017009181.1:c.6767C>T	XP_016864670.1:p.Pro2256Leu
XM_017009182.1:c.6767C>T	XP_016864671.1:p.Pro2256Leu
XM_017009183.1:c.6767C>T	XP_016864672.1:p.Pro2256Leu
XM_017009184.1:c.6767C>T	XP_016864673.1:p.Pro2256Leu
XM_017009185.1:c.1856C>T	XP_016864674.1:p.Pro619Leu
XM_017009186.1:c.1409C>T	XP_016864675.1:p.Pro470Leu
XM_017009187.1:c.6767C>T	XP_016864676.1:p.Pro2256Leu
XM_017009188.1:c.746C>T	XP_016864677.1:p.Pro249Leu
XM_024454388.1:c.5672C>T	XP_024310156.1:p.Pro1891Leu
XM_024454389.1:c.5261C>T	XP_024310157.1:p.Pro1754Leu
XR_001742034.1:n.6784C>T
XR_001742035.1:n.6784C>T
XR_925598.1:n.6866C>T