Canonical Allele Identifier: CA443535713

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1633687
• ClinVar RCV Id: RCV002124121
• dbSNP Id: rs1580177053
• MyVariant Identifiers: chr5:g.13776756G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776647G>A , CM000667.2:g.13776647G>A	GRCh38
NC_000005.9:g.13776756G>A , CM000667.1:g.13776756G>A	GRCh37
NC_000005.8:g.13829756G>A	NCBI36
NG_013081.1:g.172834C>T
NG_013081.2:g.172834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9165C>T MANE Select	ENSP00000265104.4:p.Val3055=
ENST00000681290.1:c.9120C>T	ENSP00000505288.1:p.Val3040=
ENST00000265104.4:c.9165C>T	ENSP00000265104.4:p.Val3055=
NM_001369.2:c.9165C>T	NP_001360.1:p.Val3055=
XM_005248262.2:c.9120C>T	XP_005248319.1:p.Val3040=
XM_011513990.1:c.*52C>T	XP_011512292.1:n.*52C>T
XR_925598.1:n.9236C>T
XM_005248262.3:c.9273C>T	XP_005248319.2:p.Val3091=
XM_017009177.1:c.9273C>T	XP_016864666.1:p.Val3091=
XM_017009178.1:c.8178C>T	XP_016864667.1:p.Val2726=
XM_017009179.2:c.8178C>T	XP_016864668.1:p.Val2726=
XM_017009180.1:c.9273C>T	XP_016864669.1:p.Val3091=
XM_017009181.1:c.9273C>T	XP_016864670.1:p.Val3091=
XM_017009182.1:c.9273C>T	XP_016864671.1:p.Val3091=
XM_017009183.1:c.9273C>T	XP_016864672.1:p.Val3091=
XM_017009184.1:c.*52C>T	XP_016864673.1:n.*52C>T
XM_017009185.1:c.4362C>T	XP_016864674.1:p.Val1454=
XM_017009186.1:c.3915C>T	XP_016864675.1:p.Val1305=
XM_017009188.1:c.3252C>T	XP_016864677.1:p.Val1084=
XM_024454388.1:c.8178C>T	XP_024310156.1:p.Val2726=
XM_024454389.1:c.7767C>T	XP_024310157.1:p.Val2589=
XR_001742034.1:n.9159C>T
XR_001742035.1:n.9154C>T
NM_001369.3:c.9165C>T MANE Select	NP_001360.1:p.Val3055=