Canonical Allele Identifier: CA359219772

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13792307G>T (hg19) ; chr5:g.13792198G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792198G>T , CM000667.2:g.13792198G>T	GRCh38
NC_000005.9:g.13792307G>T , CM000667.1:g.13792307G>T	GRCh37
NC_000005.8:g.13845307G>T	NCBI36
NG_013081.1:g.157283C>A
NG_013081.2:g.157283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8244C>A MANE Select	ENSP00000265104.4:p.His2748Gln
ENST00000681290.1:c.8199C>A	ENSP00000505288.1:p.His2733Gln
ENST00000265104.4:c.8244C>A	ENSP00000265104.4:p.His2748Gln
NM_001369.2:c.8244C>A	NP_001360.1:p.His2748Gln
XM_005248262.2:c.8199C>A	XP_005248319.1:p.His2733Gln
XM_011513990.1:c.8244C>A	XP_011512292.1:p.His2748Gln
XR_925598.1:n.8451C>A
XM_005248262.3:c.8352C>A	XP_005248319.2:p.His2784Gln
XM_017009177.1:c.8352C>A	XP_016864666.1:p.His2784Gln
XM_017009178.1:c.7257C>A	XP_016864667.1:p.His2419Gln
XM_017009179.2:c.7257C>A	XP_016864668.1:p.His2419Gln
XM_017009180.1:c.8352C>A	XP_016864669.1:p.His2784Gln
XM_017009181.1:c.8352C>A	XP_016864670.1:p.His2784Gln
XM_017009182.1:c.8352C>A	XP_016864671.1:p.His2784Gln
XM_017009183.1:c.8352C>A	XP_016864672.1:p.His2784Gln
XM_017009184.1:c.8352C>A	XP_016864673.1:p.His2784Gln
XM_017009185.1:c.3441C>A	XP_016864674.1:p.His1147Gln
XM_017009186.1:c.2994C>A	XP_016864675.1:p.His998Gln
XM_017009188.1:c.2331C>A	XP_016864677.1:p.His777Gln
XM_024454388.1:c.7257C>A	XP_024310156.1:p.His2419Gln
XM_024454389.1:c.6846C>A	XP_024310157.1:p.His2282Gln
XR_001742034.1:n.8369C>A
XR_001742035.1:n.8369C>A
NM_001369.3:c.8244C>A MANE Select	NP_001360.1:p.His2748Gln