Canonical Allele Identifier: CA359232441

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13870993-T-C
• MyVariant Identifiers: chr5:g.13871102T>C (hg19) ; chr5:g.13870993T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870993T>C , CM000667.2:g.13870993T>C	GRCh38
NC_000005.9:g.13871102T>C , CM000667.1:g.13871102T>C	GRCh37
NC_000005.8:g.13924102T>C	NCBI36
NG_013081.1:g.78488A>G
NG_013081.2:g.78488A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3608A>G MANE Select	ENSP00000265104.4:p.Lys1203Arg
ENST00000681290.1:c.3563A>G	ENSP00000505288.1:p.Lys1188Arg
ENST00000265104.4:c.3608A>G	ENSP00000265104.4:p.Lys1203Arg
NM_001369.2:c.3608A>G	NP_001360.1:p.Lys1203Arg
XM_005248262.2:c.3563A>G	XP_005248319.1:p.Lys1188Arg
XM_011513990.1:c.3608A>G	XP_011512292.1:p.Lys1203Arg
XR_925598.1:n.3815A>G
XM_005248262.3:c.3716A>G	XP_005248319.2:p.Lys1239Arg
XM_017009177.1:c.3716A>G	XP_016864666.1:p.Lys1239Arg
XM_017009178.1:c.2621A>G	XP_016864667.1:p.Lys874Arg
XM_017009179.2:c.2621A>G	XP_016864668.1:p.Lys874Arg
XM_017009180.1:c.3716A>G	XP_016864669.1:p.Lys1239Arg
XM_017009181.1:c.3716A>G	XP_016864670.1:p.Lys1239Arg
XM_017009182.1:c.3716A>G	XP_016864671.1:p.Lys1239Arg
XM_017009183.1:c.3716A>G	XP_016864672.1:p.Lys1239Arg
XM_017009184.1:c.3716A>G	XP_016864673.1:p.Lys1239Arg
XM_017009187.1:c.3716A>G	XP_016864676.1:p.Lys1239Arg
XM_024454388.1:c.2621A>G	XP_024310156.1:p.Lys874Arg
XM_024454389.1:c.2210A>G	XP_024310157.1:p.Lys737Arg
XR_001742034.1:n.3733A>G
XR_001742035.1:n.3733A>G
NM_001369.3:c.3608A>G MANE Select	NP_001360.1:p.Lys1203Arg