Canonical Allele Identifier: CA359188567

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692137G>A (hg19) ; chr5:g.13692028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692028G>A , CM000667.2:g.13692028G>A	GRCh38
NC_000005.9:g.13692137G>A , CM000667.1:g.13692137G>A	GRCh37
NC_000005.8:g.13745137G>A	NCBI36
NG_013081.1:g.257453C>T
NG_013081.2:g.257453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1164C>T
ENST00000265104.5:c.13831C>T MANE Select	ENSP00000265104.4:p.His4611Tyr
ENST00000681290.1:c.13786C>T	ENSP00000505288.1:p.His4596Tyr
ENST00000265104.4:c.13831C>T	ENSP00000265104.4:p.His4611Tyr
NM_001369.2:c.13831C>T	NP_001360.1:p.His4611Tyr
XM_005248262.2:c.13786C>T	XP_005248319.1:p.His4596Tyr
XM_005248262.3:c.13939C>T	XP_005248319.2:p.His4647Tyr
XM_017009177.1:c.13519C>T	XP_016864666.1:p.His4507Tyr
XM_017009178.1:c.12844C>T	XP_016864667.1:p.His4282Tyr
XM_017009179.2:c.12844C>T	XP_016864668.1:p.His4282Tyr
XM_017009185.1:c.9028C>T	XP_016864674.1:p.His3010Tyr
XM_017009186.1:c.8581C>T	XP_016864675.1:p.His2861Tyr
XM_017009188.1:c.7918C>T	XP_016864677.1:p.His2640Tyr
XM_024454388.1:c.12844C>T	XP_024310156.1:p.His4282Tyr
XM_024454389.1:c.12433C>T	XP_024310157.1:p.His4145Tyr
NM_001369.3:c.13831C>T MANE Select	NP_001360.1:p.His4611Tyr