Canonical Allele Identifier: CA359212964

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13780950-C-A
• MyVariant Identifiers: chr5:g.13781059C>A (hg19) ; chr5:g.13780950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780950C>A , CM000667.2:g.13780950C>A	GRCh38
NC_000005.9:g.13781059C>A , CM000667.1:g.13781059C>A	GRCh37
NC_000005.8:g.13834059C>A	NCBI36
NG_013081.1:g.168531G>T
NG_013081.2:g.168531G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8830G>T MANE Select	ENSP00000265104.4:p.Val2944Phe
ENST00000681290.1:c.8785G>T	ENSP00000505288.1:p.Val2929Phe
ENST00000265104.4:c.8830G>T	ENSP00000265104.4:p.Val2944Phe
NM_001369.2:c.8830G>T	NP_001360.1:p.Val2944Phe
XM_005248262.2:c.8785G>T	XP_005248319.1:p.Val2929Phe
XM_011513990.1:c.8830G>T	XP_011512292.1:p.Val2944Phe
XR_925598.1:n.9028-3595G>T
XM_005248262.3:c.8938G>T	XP_005248319.2:p.Val2980Phe
XM_017009177.1:c.8938G>T	XP_016864666.1:p.Val2980Phe
XM_017009178.1:c.7843G>T	XP_016864667.1:p.Val2615Phe
XM_017009179.2:c.7843G>T	XP_016864668.1:p.Val2615Phe
XM_017009180.1:c.8938G>T	XP_016864669.1:p.Val2980Phe
XM_017009181.1:c.8938G>T	XP_016864670.1:p.Val2980Phe
XM_017009182.1:c.8938G>T	XP_016864671.1:p.Val2980Phe
XM_017009183.1:c.8938G>T	XP_016864672.1:p.Val2980Phe
XM_017009184.1:c.8938G>T	XP_016864673.1:p.Val2980Phe
XM_017009185.1:c.4027G>T	XP_016864674.1:p.Val1343Phe
XM_017009186.1:c.3580G>T	XP_016864675.1:p.Val1194Phe
XM_017009188.1:c.2917G>T	XP_016864677.1:p.Val973Phe
XM_024454388.1:c.7843G>T	XP_024310156.1:p.Val2615Phe
XM_024454389.1:c.7432G>T	XP_024310157.1:p.Val2478Phe
XR_001742034.1:n.8946-3595G>T
XR_001742035.1:n.8946-3595G>T
NM_001369.3:c.8830G>T MANE Select	NP_001360.1:p.Val2944Phe