Canonical Allele Identifier: CA3202628

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13777219C>G , CM000667.2:g.13777219C>G	GRCh38
NC_000005.9:g.13777328C>G , CM000667.1:g.13777328C>G	GRCh37
NC_000005.8:g.13830328C>G	NCBI36
NG_013081.1:g.172262G>C
NG_013081.2:g.172262G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9088G>C MANE Select	NP_001360.1:p.Val3030Leu
ENST00000265104.5:c.9088G>C MANE Select	ENSP00000265104.4:p.Val3030Leu
NM_001369.2:c.9088G>C	NP_001360.1:p.Val3030Leu
ENST00000265104.4:c.9088G>C	ENSP00000265104.4:p.Val3030Leu
ENST00000681290.1:c.9043G>C	ENSP00000505288.1:p.Val3015Leu
XM_005248262.2:c.9043G>C	XP_005248319.1:p.Val3015Leu
XM_005248262.3:c.9196G>C	XP_005248319.2:p.Val3066Leu
XM_011513990.1:c.9088G>C	XP_011512292.1:p.Val3030Leu
XM_017009177.1:c.9196G>C	XP_016864666.1:p.Val3066Leu
XM_017009178.1:c.8101G>C	XP_016864667.1:p.Val2701Leu
XM_017009179.2:c.8101G>C	XP_016864668.1:p.Val2701Leu
XM_017009180.1:c.9196G>C	XP_016864669.1:p.Val3066Leu
XM_017009181.1:c.9196G>C	XP_016864670.1:p.Val3066Leu
XM_017009182.1:c.9196G>C	XP_016864671.1:p.Val3066Leu
XM_017009183.1:c.9196G>C	XP_016864672.1:p.Val3066Leu
XM_017009184.1:c.9196G>C	XP_016864673.1:p.Val3066Leu
XM_017009185.1:c.4285G>C	XP_016864674.1:p.Val1429Leu
XM_017009186.1:c.3838G>C	XP_016864675.1:p.Val1280Leu
XM_017009188.1:c.3175G>C	XP_016864677.1:p.Val1059Leu
XM_024454388.1:c.8101G>C	XP_024310156.1:p.Val2701Leu
XM_024454389.1:c.7690G>C	XP_024310157.1:p.Val2564Leu
XR_001742034.1:n.9082G>C
XR_001742035.1:n.9082G>C
XR_925598.1:n.9164G>C