Canonical Allele Identifier: CA359221024

Gene: DNAH5

Linked Data

• dbSNP Id: rs1757340357
• COSMIC: COSM6240450
• MyVariant Identifiers: chr5:g.13793660T>A (hg19) ; chr5:g.13793551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793551T>A , CM000667.2:g.13793551T>A	GRCh38
NC_000005.9:g.13793660T>A , CM000667.1:g.13793660T>A	GRCh37
NC_000005.8:g.13846660T>A	NCBI36
NG_013081.1:g.155930A>T
NG_013081.2:g.155930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8188A>T MANE Select	ENSP00000265104.4:p.Thr2730Ser
ENST00000681290.1:c.8143A>T	ENSP00000505288.1:p.Thr2715Ser
ENST00000265104.4:c.8188A>T	ENSP00000265104.4:p.Thr2730Ser
NM_001369.2:c.8188A>T	NP_001360.1:p.Thr2730Ser
XM_005248262.2:c.8143A>T	XP_005248319.1:p.Thr2715Ser
XM_011513990.1:c.8188A>T	XP_011512292.1:p.Thr2730Ser
XR_925598.1:n.8395A>T
XM_005248262.3:c.8296A>T	XP_005248319.2:p.Thr2766Ser
XM_017009177.1:c.8296A>T	XP_016864666.1:p.Thr2766Ser
XM_017009178.1:c.7201A>T	XP_016864667.1:p.Thr2401Ser
XM_017009179.2:c.7201A>T	XP_016864668.1:p.Thr2401Ser
XM_017009180.1:c.8296A>T	XP_016864669.1:p.Thr2766Ser
XM_017009181.1:c.8296A>T	XP_016864670.1:p.Thr2766Ser
XM_017009182.1:c.8296A>T	XP_016864671.1:p.Thr2766Ser
XM_017009183.1:c.8296A>T	XP_016864672.1:p.Thr2766Ser
XM_017009184.1:c.8296A>T	XP_016864673.1:p.Thr2766Ser
XM_017009185.1:c.3385A>T	XP_016864674.1:p.Thr1129Ser
XM_017009186.1:c.2938A>T	XP_016864675.1:p.Thr980Ser
XM_017009188.1:c.2275A>T	XP_016864677.1:p.Thr759Ser
XM_024454388.1:c.7201A>T	XP_024310156.1:p.Thr2401Ser
XM_024454389.1:c.6790A>T	XP_024310157.1:p.Thr2264Ser
XR_001742034.1:n.8313A>T
XR_001742035.1:n.8313A>T
NM_001369.3:c.8188A>T MANE Select	NP_001360.1:p.Thr2730Ser