Canonical Allele Identifier: CA3203463

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830058T>C , CM000667.2:g.13830058T>C	GRCh38
NC_000005.9:g.13830167T>C , CM000667.1:g.13830167T>C	GRCh37
NC_000005.8:g.13883167T>C	NCBI36
NG_013081.1:g.119423A>G
NG_013081.2:g.119423A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6217A>G MANE Select	NP_001360.1:p.Met2073Val
ENST00000265104.5:c.6217A>G MANE Select	ENSP00000265104.4:p.Met2073Val
NM_001369.2:c.6217A>G	NP_001360.1:p.Met2073Val
ENST00000265104.4:c.6217A>G	ENSP00000265104.4:p.Met2073Val
ENST00000681290.1:c.6172A>G	ENSP00000505288.1:p.Met2058Val
ENST00000683090.1:n.1148A>G
XM_005248262.2:c.6172A>G	XP_005248319.1:p.Met2058Val
XM_005248262.3:c.6325A>G	XP_005248319.2:p.Met2109Val
XM_011513990.1:c.6217A>G	XP_011512292.1:p.Met2073Val
XM_017009177.1:c.6325A>G	XP_016864666.1:p.Met2109Val
XM_017009178.1:c.5230A>G	XP_016864667.1:p.Met1744Val
XM_017009179.2:c.5230A>G	XP_016864668.1:p.Met1744Val
XM_017009180.1:c.6325A>G	XP_016864669.1:p.Met2109Val
XM_017009181.1:c.6325A>G	XP_016864670.1:p.Met2109Val
XM_017009182.1:c.6325A>G	XP_016864671.1:p.Met2109Val
XM_017009183.1:c.6325A>G	XP_016864672.1:p.Met2109Val
XM_017009184.1:c.6325A>G	XP_016864673.1:p.Met2109Val
XM_017009185.1:c.1414A>G	XP_016864674.1:p.Met472Val
XM_017009186.1:c.967A>G	XP_016864675.1:p.Met323Val
XM_017009187.1:c.6325A>G	XP_016864676.1:p.Met2109Val
XM_017009188.1:c.304A>G	XP_016864677.1:p.Met102Val
XM_024454388.1:c.5230A>G	XP_024310156.1:p.Met1744Val
XM_024454389.1:c.4819A>G	XP_024310157.1:p.Met1607Val
XR_001742034.1:n.6342A>G
XR_001742035.1:n.6342A>G
XR_925598.1:n.6424A>G