Canonical Allele Identifier: CA359190155

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752324A>C (hg19) ; chr5:g.13752215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752215A>C , CM000667.2:g.13752215A>C	GRCh38
NC_000005.9:g.13752324A>C , CM000667.1:g.13752324A>C	GRCh37
NC_000005.8:g.13805324A>C	NCBI36
NG_013081.1:g.197266T>G
NG_013081.2:g.197266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10947T>G MANE Select	ENSP00000265104.4:p.Ile3649Met
ENST00000681290.1:c.10902T>G	ENSP00000505288.1:p.Ile3634Met
ENST00000265104.4:c.10947T>G	ENSP00000265104.4:p.Ile3649Met
NM_001369.2:c.10947T>G	NP_001360.1:p.Ile3649Met
XM_005248262.2:c.10902T>G	XP_005248319.1:p.Ile3634Met
XM_005248262.3:c.11055T>G	XP_005248319.2:p.Ile3685Met
XM_017009177.1:c.11055T>G	XP_016864666.1:p.Ile3685Met
XM_017009178.1:c.9960T>G	XP_016864667.1:p.Ile3320Met
XM_017009179.2:c.9960T>G	XP_016864668.1:p.Ile3320Met
XM_017009180.1:c.11055T>G	XP_016864669.1:p.Ile3685Met
XM_017009181.1:c.11055T>G	XP_016864670.1:p.Ile3685Met
XM_017009182.1:c.11055T>G	XP_016864671.1:p.Ile3685Met
XM_017009185.1:c.6144T>G	XP_016864674.1:p.Ile2048Met
XM_017009186.1:c.5697T>G	XP_016864675.1:p.Ile1899Met
XM_017009188.1:c.5034T>G	XP_016864677.1:p.Ile1678Met
XM_024454388.1:c.9960T>G	XP_024310156.1:p.Ile3320Met
XM_024454389.1:c.9549T>G	XP_024310157.1:p.Ile3183Met
NM_001369.3:c.10947T>G MANE Select	NP_001360.1:p.Ile3649Met