Canonical Allele Identifier: CA443263521

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2784966
• ClinVar RCV Id: RCV003648174
• MyVariant Identifiers: chr5:g.13792244C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792135C>A , CM000667.2:g.13792135C>A	GRCh38
NC_000005.9:g.13792244C>A , CM000667.1:g.13792244C>A	GRCh37
NC_000005.8:g.13845244C>A	NCBI36
NG_013081.1:g.157346G>T
NG_013081.2:g.157346G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.8307G>T MANE Select	ENSP00000265104.4:p.Leu2769=
ENST00000681290.1:c.8262G>T	ENSP00000505288.1:p.Leu2754=
ENST00000265104.4:c.8307G>T	ENSP00000265104.4:p.Leu2769=
NM_001369.2:c.8307G>T	NP_001360.1:p.Leu2769=
XM_005248262.2:c.8262G>T	XP_005248319.1:p.Leu2754=
XM_011513990.1:c.8307G>T	XP_011512292.1:p.Leu2769=
XR_925598.1:n.8514G>T
XM_005248262.3:c.8415G>T	XP_005248319.2:p.Leu2805=
XM_017009177.1:c.8415G>T	XP_016864666.1:p.Leu2805=
XM_017009178.1:c.7320G>T	XP_016864667.1:p.Leu2440=
XM_017009179.2:c.7320G>T	XP_016864668.1:p.Leu2440=
XM_017009180.1:c.8415G>T	XP_016864669.1:p.Leu2805=
XM_017009181.1:c.8415G>T	XP_016864670.1:p.Leu2805=
XM_017009182.1:c.8415G>T	XP_016864671.1:p.Leu2805=
XM_017009183.1:c.8415G>T	XP_016864672.1:p.Leu2805=
XM_017009184.1:c.8415G>T	XP_016864673.1:p.Leu2805=
XM_017009185.1:c.3504G>T	XP_016864674.1:p.Leu1168=
XM_017009186.1:c.3057G>T	XP_016864675.1:p.Leu1019=
XM_017009188.1:c.2394G>T	XP_016864677.1:p.Leu798=
XM_024454388.1:c.7320G>T	XP_024310156.1:p.Leu2440=
XM_024454389.1:c.6909G>T	XP_024310157.1:p.Leu2303=
XR_001742034.1:n.8432G>T
XR_001742035.1:n.8432G>T
NM_001369.3:c.8307G>T MANE Select	NP_001360.1:p.Leu2769=