Canonical Allele Identifier: CA359210012

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13777200A>G , CM000667.2:g.13777200A>G	GRCh38
NC_000005.9:g.13777309A>G , CM000667.1:g.13777309A>G	GRCh37
NC_000005.8:g.13830309A>G	NCBI36
NG_013081.1:g.172281T>C
NG_013081.2:g.172281T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9105+2T>C MANE Select	NP_001360.1:n.9105+2T>C
ENST00000265104.5:c.9105+2T>C MANE Select	ENSP00000265104.4:n.9105+2T>C
NM_001369.2:c.9105+2T>C	NP_001360.1:n.9105+2T>C
ENST00000265104.4:c.9105+2T>C	ENSP00000265104.4:n.9105+2T>C
ENST00000681290.1:c.9060+2T>C	ENSP00000505288.1:n.9060+2T>C
XM_005248262.2:c.9060+2T>C	XP_005248319.1:n.9060+2T>C
XM_005248262.3:c.9213+2T>C	XP_005248319.2:n.9213+2T>C
XM_011513990.1:c.9100+7T>C	XP_011512292.1:n.9100+7T>C
XM_017009177.1:c.9213+2T>C	XP_016864666.1:n.9213+2T>C
XM_017009178.1:c.8118+2T>C	XP_016864667.1:n.8118+2T>C
XM_017009179.2:c.8118+2T>C	XP_016864668.1:n.8118+2T>C
XM_017009180.1:c.9213+2T>C	XP_016864669.1:n.9213+2T>C
XM_017009181.1:c.9213+2T>C	XP_016864670.1:n.9213+2T>C
XM_017009182.1:c.9213+2T>C	XP_016864671.1:n.9213+2T>C
XM_017009183.1:c.9213+2T>C	XP_016864672.1:n.9213+2T>C
XM_017009184.1:c.9208+7T>C	XP_016864673.1:n.9208+7T>C
XM_017009185.1:c.4302+2T>C	XP_016864674.1:n.4302+2T>C
XM_017009186.1:c.3855+2T>C	XP_016864675.1:n.3855+2T>C
XM_017009188.1:c.3192+2T>C	XP_016864677.1:n.3192+2T>C
XM_024454388.1:c.8118+2T>C	XP_024310156.1:n.8118+2T>C
XM_024454389.1:c.7707+2T>C	XP_024310157.1:n.7707+2T>C
XR_001742034.1:n.9099+2T>C
XR_001742035.1:n.9094+7T>C
XR_925598.1:n.9176+7T>C