Canonical Allele Identifier: CA359219560

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13792271T>A (hg19) ; chr5:g.13792162T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792162T>A , CM000667.2:g.13792162T>A	GRCh38
NC_000005.9:g.13792271T>A , CM000667.1:g.13792271T>A	GRCh37
NC_000005.8:g.13845271T>A	NCBI36
NG_013081.1:g.157319A>T
NG_013081.2:g.157319A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8280A>T MANE Select	ENSP00000265104.4:p.Arg2760Ser
ENST00000681290.1:c.8235A>T	ENSP00000505288.1:p.Arg2745Ser
ENST00000265104.4:c.8280A>T	ENSP00000265104.4:p.Arg2760Ser
NM_001369.2:c.8280A>T	NP_001360.1:p.Arg2760Ser
XM_005248262.2:c.8235A>T	XP_005248319.1:p.Arg2745Ser
XM_011513990.1:c.8280A>T	XP_011512292.1:p.Arg2760Ser
XR_925598.1:n.8487A>T
XM_005248262.3:c.8388A>T	XP_005248319.2:p.Arg2796Ser
XM_017009177.1:c.8388A>T	XP_016864666.1:p.Arg2796Ser
XM_017009178.1:c.7293A>T	XP_016864667.1:p.Arg2431Ser
XM_017009179.2:c.7293A>T	XP_016864668.1:p.Arg2431Ser
XM_017009180.1:c.8388A>T	XP_016864669.1:p.Arg2796Ser
XM_017009181.1:c.8388A>T	XP_016864670.1:p.Arg2796Ser
XM_017009182.1:c.8388A>T	XP_016864671.1:p.Arg2796Ser
XM_017009183.1:c.8388A>T	XP_016864672.1:p.Arg2796Ser
XM_017009184.1:c.8388A>T	XP_016864673.1:p.Arg2796Ser
XM_017009185.1:c.3477A>T	XP_016864674.1:p.Arg1159Ser
XM_017009186.1:c.3030A>T	XP_016864675.1:p.Arg1010Ser
XM_017009188.1:c.2367A>T	XP_016864677.1:p.Arg789Ser
XM_024454388.1:c.7293A>T	XP_024310156.1:p.Arg2431Ser
XM_024454389.1:c.6882A>T	XP_024310157.1:p.Arg2294Ser
XR_001742034.1:n.8405A>T
XR_001742035.1:n.8405A>T
NM_001369.3:c.8280A>T MANE Select	NP_001360.1:p.Arg2760Ser