Canonical Allele Identifier: CA359209685

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776677-A-C
• MyVariant Identifiers: chr5:g.13776786A>C (hg19) ; chr5:g.13776677A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776677A>C , CM000667.2:g.13776677A>C	GRCh38
NC_000005.9:g.13776786A>C , CM000667.1:g.13776786A>C	GRCh37
NC_000005.8:g.13829786A>C	NCBI36
NG_013081.1:g.172804T>G
NG_013081.2:g.172804T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9135T>G MANE Select	ENSP00000265104.4:p.Ile3045Met
ENST00000681290.1:c.9090T>G	ENSP00000505288.1:p.Ile3030Met
ENST00000265104.4:c.9135T>G	ENSP00000265104.4:p.Ile3045Met
NM_001369.2:c.9135T>G	NP_001360.1:p.Ile3045Met
XM_005248262.2:c.9090T>G	XP_005248319.1:p.Ile3030Met
XM_011513990.1:c.*22T>G	XP_011512292.1:n.*22T>G
XR_925598.1:n.9206T>G
XM_005248262.3:c.9243T>G	XP_005248319.2:p.Ile3081Met
XM_017009177.1:c.9243T>G	XP_016864666.1:p.Ile3081Met
XM_017009178.1:c.8148T>G	XP_016864667.1:p.Ile2716Met
XM_017009179.2:c.8148T>G	XP_016864668.1:p.Ile2716Met
XM_017009180.1:c.9243T>G	XP_016864669.1:p.Ile3081Met
XM_017009181.1:c.9243T>G	XP_016864670.1:p.Ile3081Met
XM_017009182.1:c.9243T>G	XP_016864671.1:p.Ile3081Met
XM_017009183.1:c.9243T>G	XP_016864672.1:p.Ile3081Met
XM_017009184.1:c.*22T>G	XP_016864673.1:n.*22T>G
XM_017009185.1:c.4332T>G	XP_016864674.1:p.Ile1444Met
XM_017009186.1:c.3885T>G	XP_016864675.1:p.Ile1295Met
XM_017009188.1:c.3222T>G	XP_016864677.1:p.Ile1074Met
XM_024454388.1:c.8148T>G	XP_024310156.1:p.Ile2716Met
XM_024454389.1:c.7737T>G	XP_024310157.1:p.Ile2579Met
XR_001742034.1:n.9129T>G
XR_001742035.1:n.9124T>G
NM_001369.3:c.9135T>G MANE Select	NP_001360.1:p.Ile3045Met