Canonical Allele Identifier: CA1073397650

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13814852A>G , CM000667.2:g.13814852A>G	GRCh38
NC_000005.9:g.13814961A>G , CM000667.1:g.13814961A>G	GRCh37
NC_000005.8:g.13867961A>G	NCBI36
NG_013081.1:g.134629T>C
NG_013081.2:g.134629T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6989-6T>C MANE Select	NP_001360.1:n.6989-6T>C
ENST00000265104.5:c.6989-6T>C MANE Select	ENSP00000265104.4:n.6989-6T>C
NM_001369.2:c.6989-6T>C	NP_001360.1:n.6989-6T>C
ENST00000265104.4:c.6989-6T>C	ENSP00000265104.4:n.6989-6T>C
ENST00000681290.1:c.6944-6T>C	ENSP00000505288.1:n.6944-6T>C
XM_005248262.2:c.6944-6T>C	XP_005248319.1:n.6944-6T>C
XM_005248262.3:c.7097-6T>C	XP_005248319.2:n.7097-6T>C
XM_011513990.1:c.6989-6T>C	XP_011512292.1:n.6989-6T>C
XM_017009177.1:c.7097-6T>C	XP_016864666.1:n.7097-6T>C
XM_017009178.1:c.6002-6T>C	XP_016864667.1:n.6002-6T>C
XM_017009179.2:c.6002-6T>C	XP_016864668.1:n.6002-6T>C
XM_017009180.1:c.7097-6T>C	XP_016864669.1:n.7097-6T>C
XM_017009181.1:c.7097-6T>C	XP_016864670.1:n.7097-6T>C
XM_017009182.1:c.7097-6T>C	XP_016864671.1:n.7097-6T>C
XM_017009183.1:c.7097-6T>C	XP_016864672.1:n.7097-6T>C
XM_017009184.1:c.7097-6T>C	XP_016864673.1:n.7097-6T>C
XM_017009185.1:c.2186-6T>C	XP_016864674.1:n.2186-6T>C
XM_017009186.1:c.1739-6T>C	XP_016864675.1:n.1739-6T>C
XM_017009187.1:c.7097-6T>C	XP_016864676.1:n.7097-6T>C
XM_017009188.1:c.1076-6T>C	XP_016864677.1:n.1076-6T>C
XM_024454388.1:c.6002-6T>C	XP_024310156.1:n.6002-6T>C
XM_024454389.1:c.5591-6T>C	XP_024310157.1:n.5591-6T>C
XR_001742034.1:n.7114-6T>C
XR_001742035.1:n.7114-6T>C
XR_925598.1:n.7196-6T>C