Canonical Allele Identifier: CA3202001

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13737387A>G , CM000667.2:g.13737387A>G	GRCh38
NC_000005.9:g.13737496A>G , CM000667.1:g.13737496A>G	GRCh37
NC_000005.8:g.13790496A>G	NCBI36
NG_013081.1:g.212094T>C
NG_013081.2:g.212094T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11320T>C MANE Select	NP_001360.1:p.Ser3774Pro
ENST00000265104.5:c.11320T>C MANE Select	ENSP00000265104.4:p.Ser3774Pro
NM_001369.2:c.11320T>C	NP_001360.1:p.Ser3774Pro
ENST00000265104.4:c.11320T>C	ENSP00000265104.4:p.Ser3774Pro
ENST00000681290.1:c.11275T>C	ENSP00000505288.1:p.Ser3759Pro
XM_005248262.2:c.11275T>C	XP_005248319.1:p.Ser3759Pro
XM_005248262.3:c.11428T>C	XP_005248319.2:p.Ser3810Pro
XM_017009177.1:c.11428T>C	XP_016864666.1:p.Ser3810Pro
XM_017009178.1:c.10333T>C	XP_016864667.1:p.Ser3445Pro
XM_017009179.2:c.10333T>C	XP_016864668.1:p.Ser3445Pro
XM_017009180.1:c.11428T>C	XP_016864669.1:p.Ser3810Pro
XM_017009181.1:c.11428T>C	XP_016864670.1:p.Ser3810Pro
XM_017009182.1:c.11320-1455T>C	XP_016864671.1:n.11320-1455T>C
XM_017009185.1:c.6517T>C	XP_016864674.1:p.Ser2173Pro
XM_017009186.1:c.6070T>C	XP_016864675.1:p.Ser2024Pro
XM_017009188.1:c.5407T>C	XP_016864677.1:p.Ser1803Pro
XM_024454388.1:c.10333T>C	XP_024310156.1:p.Ser3445Pro
XM_024454389.1:c.9922T>C	XP_024310157.1:p.Ser3308Pro