Canonical Allele Identifier: CA359219061

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792056C>G , CM000667.2:g.13792056C>G	GRCh38
NC_000005.9:g.13792165C>G , CM000667.1:g.13792165C>G	GRCh37
NC_000005.8:g.13845165C>G	NCBI36
NG_013081.1:g.157425G>C
NG_013081.2:g.157425G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8386G>C MANE Select	NP_001360.1:p.Asp2796His
ENST00000265104.5:c.8386G>C MANE Select	ENSP00000265104.4:p.Asp2796His
NM_001369.2:c.8386G>C	NP_001360.1:p.Asp2796His
ENST00000265104.4:c.8386G>C	ENSP00000265104.4:p.Asp2796His
ENST00000681290.1:c.8341G>C	ENSP00000505288.1:p.Asp2781His
XM_005248262.2:c.8341G>C	XP_005248319.1:p.Asp2781His
XM_005248262.3:c.8494G>C	XP_005248319.2:p.Asp2832His
XM_011513990.1:c.8386G>C	XP_011512292.1:p.Asp2796His
XM_017009177.1:c.8494G>C	XP_016864666.1:p.Asp2832His
XM_017009178.1:c.7399G>C	XP_016864667.1:p.Asp2467His
XM_017009179.2:c.7399G>C	XP_016864668.1:p.Asp2467His
XM_017009180.1:c.8494G>C	XP_016864669.1:p.Asp2832His
XM_017009181.1:c.8494G>C	XP_016864670.1:p.Asp2832His
XM_017009182.1:c.8494G>C	XP_016864671.1:p.Asp2832His
XM_017009183.1:c.8494G>C	XP_016864672.1:p.Asp2832His
XM_017009184.1:c.8494G>C	XP_016864673.1:p.Asp2832His
XM_017009185.1:c.3583G>C	XP_016864674.1:p.Asp1195His
XM_017009186.1:c.3136G>C	XP_016864675.1:p.Asp1046His
XM_017009188.1:c.2473G>C	XP_016864677.1:p.Asp825His
XM_024454388.1:c.7399G>C	XP_024310156.1:p.Asp2467His
XM_024454389.1:c.6988G>C	XP_024310157.1:p.Asp2330His
XR_001742034.1:n.8511G>C
XR_001742035.1:n.8511G>C
XR_925598.1:n.8593G>C