Canonical Allele Identifier: CA359220793

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13793633T>A (hg19) ; chr5:g.13793524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793524T>A , CM000667.2:g.13793524T>A	GRCh38
NC_000005.9:g.13793633T>A , CM000667.1:g.13793633T>A	GRCh37
NC_000005.8:g.13846633T>A	NCBI36
NG_013081.1:g.155957A>T
NG_013081.2:g.155957A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8215A>T MANE Select	ENSP00000265104.4:p.Lys2739Ter
ENST00000681290.1:c.8170A>T	ENSP00000505288.1:p.Lys2724Ter
ENST00000265104.4:c.8215A>T	ENSP00000265104.4:p.Lys2739Ter
NM_001369.2:c.8215A>T	NP_001360.1:p.Lys2739Ter
XM_005248262.2:c.8170A>T	XP_005248319.1:p.Lys2724Ter
XM_011513990.1:c.8215A>T	XP_011512292.1:p.Lys2739Ter
XR_925598.1:n.8422A>T
XM_005248262.3:c.8323A>T	XP_005248319.2:p.Lys2775Ter
XM_017009177.1:c.8323A>T	XP_016864666.1:p.Lys2775Ter
XM_017009178.1:c.7228A>T	XP_016864667.1:p.Lys2410Ter
XM_017009179.2:c.7228A>T	XP_016864668.1:p.Lys2410Ter
XM_017009180.1:c.8323A>T	XP_016864669.1:p.Lys2775Ter
XM_017009181.1:c.8323A>T	XP_016864670.1:p.Lys2775Ter
XM_017009182.1:c.8323A>T	XP_016864671.1:p.Lys2775Ter
XM_017009183.1:c.8323A>T	XP_016864672.1:p.Lys2775Ter
XM_017009184.1:c.8323A>T	XP_016864673.1:p.Lys2775Ter
XM_017009185.1:c.3412A>T	XP_016864674.1:p.Lys1138Ter
XM_017009186.1:c.2965A>T	XP_016864675.1:p.Lys989Ter
XM_017009188.1:c.2302A>T	XP_016864677.1:p.Lys768Ter
XM_024454388.1:c.7228A>T	XP_024310156.1:p.Lys2410Ter
XM_024454389.1:c.6817A>T	XP_024310157.1:p.Lys2273Ter
XR_001742034.1:n.8340A>T
XR_001742035.1:n.8340A>T
NM_001369.3:c.8215A>T MANE Select	NP_001360.1:p.Lys2739Ter