Canonical Allele Identifier: CA359211793

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841814-A-G
• MyVariant Identifiers: chr5:g.13841923A>G (hg19) ; chr5:g.13841814A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841814A>G , CM000667.2:g.13841814A>G	GRCh38
NC_000005.9:g.13841923A>G , CM000667.1:g.13841923A>G	GRCh37
NC_000005.8:g.13894923A>G	NCBI36
NG_013081.1:g.107667T>C
NG_013081.2:g.107667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5362T>C MANE Select	ENSP00000265104.4:p.Trp1788Arg
ENST00000681290.1:c.5317T>C	ENSP00000505288.1:p.Trp1773Arg
ENST00000265104.4:c.5362T>C	ENSP00000265104.4:p.Trp1788Arg
NM_001369.2:c.5362T>C	NP_001360.1:p.Trp1788Arg
XM_005248262.2:c.5317T>C	XP_005248319.1:p.Trp1773Arg
XM_011513990.1:c.5362T>C	XP_011512292.1:p.Trp1788Arg
XR_925598.1:n.5569T>C
XM_005248262.3:c.5470T>C	XP_005248319.2:p.Trp1824Arg
XM_017009177.1:c.5470T>C	XP_016864666.1:p.Trp1824Arg
XM_017009178.1:c.4375T>C	XP_016864667.1:p.Trp1459Arg
XM_017009179.2:c.4375T>C	XP_016864668.1:p.Trp1459Arg
XM_017009180.1:c.5470T>C	XP_016864669.1:p.Trp1824Arg
XM_017009181.1:c.5470T>C	XP_016864670.1:p.Trp1824Arg
XM_017009182.1:c.5470T>C	XP_016864671.1:p.Trp1824Arg
XM_017009183.1:c.5470T>C	XP_016864672.1:p.Trp1824Arg
XM_017009184.1:c.5470T>C	XP_016864673.1:p.Trp1824Arg
XM_017009185.1:c.559T>C	XP_016864674.1:p.Trp187Arg
XM_017009186.1:c.112T>C	XP_016864675.1:p.Trp38Arg
XM_017009187.1:c.5470T>C	XP_016864676.1:p.Trp1824Arg
XM_024454388.1:c.4375T>C	XP_024310156.1:p.Trp1459Arg
XM_024454389.1:c.3964T>C	XP_024310157.1:p.Trp1322Arg
XR_001742034.1:n.5487T>C
XR_001742035.1:n.5487T>C
NM_001369.3:c.5362T>C MANE Select	NP_001360.1:p.Trp1788Arg