Canonical Allele Identifier: CA359212820

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13781011A>T (hg19) ; chr5:g.13780902A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780902A>T , CM000667.2:g.13780902A>T	GRCh38
NC_000005.9:g.13781011A>T , CM000667.1:g.13781011A>T	GRCh37
NC_000005.8:g.13834011A>T	NCBI36
NG_013081.1:g.168579T>A
NG_013081.2:g.168579T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8878T>A MANE Select	ENSP00000265104.4:p.Ser2960Thr
ENST00000681290.1:c.8833T>A	ENSP00000505288.1:p.Ser2945Thr
ENST00000265104.4:c.8878T>A	ENSP00000265104.4:p.Ser2960Thr
NM_001369.2:c.8878T>A	NP_001360.1:p.Ser2960Thr
XM_005248262.2:c.8833T>A	XP_005248319.1:p.Ser2945Thr
XM_011513990.1:c.8878T>A	XP_011512292.1:p.Ser2960Thr
XR_925598.1:n.9028-3547T>A
XM_005248262.3:c.8986T>A	XP_005248319.2:p.Ser2996Thr
XM_017009177.1:c.8986T>A	XP_016864666.1:p.Ser2996Thr
XM_017009178.1:c.7891T>A	XP_016864667.1:p.Ser2631Thr
XM_017009179.2:c.7891T>A	XP_016864668.1:p.Ser2631Thr
XM_017009180.1:c.8986T>A	XP_016864669.1:p.Ser2996Thr
XM_017009181.1:c.8986T>A	XP_016864670.1:p.Ser2996Thr
XM_017009182.1:c.8986T>A	XP_016864671.1:p.Ser2996Thr
XM_017009183.1:c.8986T>A	XP_016864672.1:p.Ser2996Thr
XM_017009184.1:c.8986T>A	XP_016864673.1:p.Ser2996Thr
XM_017009185.1:c.4075T>A	XP_016864674.1:p.Ser1359Thr
XM_017009186.1:c.3628T>A	XP_016864675.1:p.Ser1210Thr
XM_017009188.1:c.2965T>A	XP_016864677.1:p.Ser989Thr
XM_024454388.1:c.7891T>A	XP_024310156.1:p.Ser2631Thr
XM_024454389.1:c.7480T>A	XP_024310157.1:p.Ser2494Thr
XR_001742034.1:n.8946-3547T>A
XR_001742035.1:n.8946-3547T>A
NM_001369.3:c.8878T>A MANE Select	NP_001360.1:p.Ser2960Thr