Canonical Allele Identifier: CA359218736

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13792112C>A (hg19) ; chr5:g.13792003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792003C>A , CM000667.2:g.13792003C>A	GRCh38
NC_000005.9:g.13792112C>A , CM000667.1:g.13792112C>A	GRCh37
NC_000005.8:g.13845112C>A	NCBI36
NG_013081.1:g.157478G>T
NG_013081.2:g.157478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8439G>T MANE Select	ENSP00000265104.4:p.Lys2813Asn
ENST00000681290.1:c.8394G>T	ENSP00000505288.1:p.Lys2798Asn
ENST00000265104.4:c.8439G>T	ENSP00000265104.4:p.Lys2813Asn
NM_001369.2:c.8439G>T	NP_001360.1:p.Lys2813Asn
XM_005248262.2:c.8394G>T	XP_005248319.1:p.Lys2798Asn
XM_011513990.1:c.8439G>T	XP_011512292.1:p.Lys2813Asn
XR_925598.1:n.8646G>T
XM_005248262.3:c.8547G>T	XP_005248319.2:p.Lys2849Asn
XM_017009177.1:c.8547G>T	XP_016864666.1:p.Lys2849Asn
XM_017009178.1:c.7452G>T	XP_016864667.1:p.Lys2484Asn
XM_017009179.2:c.7452G>T	XP_016864668.1:p.Lys2484Asn
XM_017009180.1:c.8547G>T	XP_016864669.1:p.Lys2849Asn
XM_017009181.1:c.8547G>T	XP_016864670.1:p.Lys2849Asn
XM_017009182.1:c.8547G>T	XP_016864671.1:p.Lys2849Asn
XM_017009183.1:c.8547G>T	XP_016864672.1:p.Lys2849Asn
XM_017009184.1:c.8547G>T	XP_016864673.1:p.Lys2849Asn
XM_017009185.1:c.3636G>T	XP_016864674.1:p.Lys1212Asn
XM_017009186.1:c.3189G>T	XP_016864675.1:p.Lys1063Asn
XM_017009188.1:c.2526G>T	XP_016864677.1:p.Lys842Asn
XM_024454388.1:c.7452G>T	XP_024310156.1:p.Lys2484Asn
XM_024454389.1:c.7041G>T	XP_024310157.1:p.Lys2347Asn
XR_001742034.1:n.8564G>T
XR_001742035.1:n.8564G>T
NM_001369.3:c.8439G>T MANE Select	NP_001360.1:p.Lys2813Asn