Canonical Allele Identifier: CA3203366

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13824234T>C , CM000667.2:g.13824234T>C	GRCh38
NC_000005.9:g.13824343T>C , CM000667.1:g.13824343T>C	GRCh37
NC_000005.8:g.13877343T>C	NCBI36
NG_013081.1:g.125247A>G
NG_013081.2:g.125247A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6544A>G MANE Select	NP_001360.1:p.Met2182Val
ENST00000265104.5:c.6544A>G MANE Select	ENSP00000265104.4:p.Met2182Val
NM_001369.2:c.6544A>G	NP_001360.1:p.Met2182Val
ENST00000265104.4:c.6544A>G	ENSP00000265104.4:p.Met2182Val
ENST00000681290.1:c.6499A>G	ENSP00000505288.1:p.Met2167Val
ENST00000683090.1:n.1475A>G
XM_005248262.2:c.6499A>G	XP_005248319.1:p.Met2167Val
XM_005248262.3:c.6652A>G	XP_005248319.2:p.Met2218Val
XM_011513990.1:c.6544A>G	XP_011512292.1:p.Met2182Val
XM_017009177.1:c.6652A>G	XP_016864666.1:p.Met2218Val
XM_017009178.1:c.5557A>G	XP_016864667.1:p.Met1853Val
XM_017009179.2:c.5557A>G	XP_016864668.1:p.Met1853Val
XM_017009180.1:c.6652A>G	XP_016864669.1:p.Met2218Val
XM_017009181.1:c.6652A>G	XP_016864670.1:p.Met2218Val
XM_017009182.1:c.6652A>G	XP_016864671.1:p.Met2218Val
XM_017009183.1:c.6652A>G	XP_016864672.1:p.Met2218Val
XM_017009184.1:c.6652A>G	XP_016864673.1:p.Met2218Val
XM_017009185.1:c.1741A>G	XP_016864674.1:p.Met581Val
XM_017009186.1:c.1294A>G	XP_016864675.1:p.Met432Val
XM_017009187.1:c.6652A>G	XP_016864676.1:p.Met2218Val
XM_017009188.1:c.631A>G	XP_016864677.1:p.Met211Val
XM_024454388.1:c.5557A>G	XP_024310156.1:p.Met1853Val
XM_024454389.1:c.5146A>G	XP_024310157.1:p.Met1716Val
XR_001742034.1:n.6669A>G
XR_001742035.1:n.6669A>G
XR_925598.1:n.6751A>G