Canonical Allele Identifier: CA359221282

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13793710C>A (hg19) ; chr5:g.13793601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793601C>A , CM000667.2:g.13793601C>A	GRCh38
NC_000005.9:g.13793710C>A , CM000667.1:g.13793710C>A	GRCh37
NC_000005.8:g.13846710C>A	NCBI36
NG_013081.1:g.155880G>T
NG_013081.2:g.155880G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8138G>T MANE Select	ENSP00000265104.4:p.Arg2713Leu
ENST00000681290.1:c.8093G>T	ENSP00000505288.1:p.Arg2698Leu
ENST00000265104.4:c.8138G>T	ENSP00000265104.4:p.Arg2713Leu
NM_001369.2:c.8138G>T	NP_001360.1:p.Arg2713Leu
XM_005248262.2:c.8093G>T	XP_005248319.1:p.Arg2698Leu
XM_011513990.1:c.8138G>T	XP_011512292.1:p.Arg2713Leu
XR_925598.1:n.8345G>T
XM_005248262.3:c.8246G>T	XP_005248319.2:p.Arg2749Leu
XM_017009177.1:c.8246G>T	XP_016864666.1:p.Arg2749Leu
XM_017009178.1:c.7151G>T	XP_016864667.1:p.Arg2384Leu
XM_017009179.2:c.7151G>T	XP_016864668.1:p.Arg2384Leu
XM_017009180.1:c.8246G>T	XP_016864669.1:p.Arg2749Leu
XM_017009181.1:c.8246G>T	XP_016864670.1:p.Arg2749Leu
XM_017009182.1:c.8246G>T	XP_016864671.1:p.Arg2749Leu
XM_017009183.1:c.8246G>T	XP_016864672.1:p.Arg2749Leu
XM_017009184.1:c.8246G>T	XP_016864673.1:p.Arg2749Leu
XM_017009185.1:c.3335G>T	XP_016864674.1:p.Arg1112Leu
XM_017009186.1:c.2888G>T	XP_016864675.1:p.Arg963Leu
XM_017009188.1:c.2225G>T	XP_016864677.1:p.Arg742Leu
XM_024454388.1:c.7151G>T	XP_024310156.1:p.Arg2384Leu
XM_024454389.1:c.6740G>T	XP_024310157.1:p.Arg2247Leu
XR_001742034.1:n.8263G>T
XR_001742035.1:n.8263G>T
NM_001369.3:c.8138G>T MANE Select	NP_001360.1:p.Arg2713Leu