Canonical Allele Identifier: CA3205023

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919180A>G , CM000667.2:g.13919180A>G	GRCh38
NC_000005.9:g.13919289A>G , CM000667.1:g.13919289A>G	GRCh37
NC_000005.8:g.13972289A>G	NCBI36
NG_013081.1:g.30301T>C
NG_013081.2:g.30301T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.971T>C MANE Select	NP_001360.1:p.Leu324Pro
ENST00000265104.5:c.971T>C MANE Select	ENSP00000265104.4:p.Leu324Pro
NM_001369.2:c.971T>C	NP_001360.1:p.Leu324Pro
ENST00000265104.4:c.971T>C	ENSP00000265104.4:p.Leu324Pro
ENST00000508040.1:n.1379T>C
ENST00000680213.1:c.731T>C	ENSP00000506622.1:p.Leu244Pro
ENST00000680213.2:n.1027T>C
ENST00000681290.1:c.926T>C	ENSP00000505288.1:p.Leu309Pro
ENST00000682376.1:n.1015T>C
ENST00000682586.1:n.1064T>C
ENST00000683011.1:n.910T>C
ENST00000683967.1:n.1070T>C
ENST00000684013.1:n.1070T>C
ENST00000684099.1:n.1066T>C
XM_005248262.2:c.926T>C	XP_005248319.1:p.Leu309Pro
XM_005248262.3:c.1079T>C	XP_005248319.2:p.Leu360Pro
XM_011513990.1:c.971T>C	XP_011512292.1:p.Leu324Pro
XM_017009177.1:c.1079T>C	XP_016864666.1:p.Leu360Pro
XM_017009178.1:c.-17T>C	XP_016864667.1:n.-17T>C
XM_017009180.1:c.1079T>C	XP_016864669.1:p.Leu360Pro
XM_017009181.1:c.1079T>C	XP_016864670.1:p.Leu360Pro
XM_017009182.1:c.1079T>C	XP_016864671.1:p.Leu360Pro
XM_017009183.1:c.1079T>C	XP_016864672.1:p.Leu360Pro
XM_017009184.1:c.1079T>C	XP_016864673.1:p.Leu360Pro
XM_017009187.1:c.1079T>C	XP_016864676.1:p.Leu360Pro
XM_024454388.1:c.-1936T>C	XP_024310156.1:n.-1936T>C
XM_024454389.1:c.-989T>C	XP_024310157.1:n.-989T>C
XR_001742034.1:n.1096T>C
XR_001742035.1:n.1096T>C
XR_925598.1:n.1178T>C