Canonical Allele Identifier: CA359212944
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780943C>G , CM000667.2:g.13780943C>G GRCh38
NC_000005.9:g.13781052C>G , CM000667.1:g.13781052C>G GRCh37
NC_000005.8:g.13834052C>G NCBI36
NG_013081.1:g.168538G>C
NG_013081.2:g.168538G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8837G>C MANE Select ENSP00000265104.4:p.Arg2946Pro
ENST00000681290.1:c.8792G>C ENSP00000505288.1:p.Arg2931Pro
ENST00000265104.4:c.8837G>C ENSP00000265104.4:p.Arg2946Pro
NM_001369.2:c.8837G>C NP_001360.1:p.Arg2946Pro
XM_005248262.2:c.8792G>C XP_005248319.1:p.Arg2931Pro
XM_011513990.1:c.8837G>C XP_011512292.1:p.Arg2946Pro
XR_925598.1:n.9028-3588G>C
XM_005248262.3:c.8945G>C XP_005248319.2:p.Arg2982Pro
XM_017009177.1:c.8945G>C XP_016864666.1:p.Arg2982Pro
XM_017009178.1:c.7850G>C XP_016864667.1:p.Arg2617Pro
XM_017009179.2:c.7850G>C XP_016864668.1:p.Arg2617Pro
XM_017009180.1:c.8945G>C XP_016864669.1:p.Arg2982Pro
XM_017009181.1:c.8945G>C XP_016864670.1:p.Arg2982Pro
XM_017009182.1:c.8945G>C XP_016864671.1:p.Arg2982Pro
XM_017009183.1:c.8945G>C XP_016864672.1:p.Arg2982Pro
XM_017009184.1:c.8945G>C XP_016864673.1:p.Arg2982Pro
XM_017009185.1:c.4034G>C XP_016864674.1:p.Arg1345Pro
XM_017009186.1:c.3587G>C XP_016864675.1:p.Arg1196Pro
XM_017009188.1:c.2924G>C XP_016864677.1:p.Arg975Pro
XM_024454388.1:c.7850G>C XP_024310156.1:p.Arg2617Pro
XM_024454389.1:c.7439G>C XP_024310157.1:p.Arg2480Pro
XR_001742034.1:n.8946-3588G>C
XR_001742035.1:n.8946-3588G>C
NM_001369.3:c.8837G>C MANE Select NP_001360.1:p.Arg2946Pro