Canonical Allele Identifier: CA359199318

Gene: DNAH5

Linked Data

• dbSNP Id: rs2151834882
• MyVariant Identifiers: chr5:g.13829623T>C (hg19) ; chr5:g.13829514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829514T>C , CM000667.2:g.13829514T>C	GRCh38
NC_000005.9:g.13829623T>C , CM000667.1:g.13829623T>C	GRCh37
NC_000005.8:g.13882623T>C	NCBI36
NG_013081.1:g.119967A>G
NG_013081.2:g.119967A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.1371A>G
ENST00000265104.5:c.6440A>G MANE Select	ENSP00000265104.4:p.Lys2147Arg
ENST00000681290.1:c.6395A>G	ENSP00000505288.1:p.Lys2132Arg
ENST00000265104.4:c.6440A>G	ENSP00000265104.4:p.Lys2147Arg
NM_001369.2:c.6440A>G	NP_001360.1:p.Lys2147Arg
XM_005248262.2:c.6395A>G	XP_005248319.1:p.Lys2132Arg
XM_011513990.1:c.6440A>G	XP_011512292.1:p.Lys2147Arg
XR_925598.1:n.6647A>G
XM_005248262.3:c.6548A>G	XP_005248319.2:p.Lys2183Arg
XM_017009177.1:c.6548A>G	XP_016864666.1:p.Lys2183Arg
XM_017009178.1:c.5453A>G	XP_016864667.1:p.Lys1818Arg
XM_017009179.2:c.5453A>G	XP_016864668.1:p.Lys1818Arg
XM_017009180.1:c.6548A>G	XP_016864669.1:p.Lys2183Arg
XM_017009181.1:c.6548A>G	XP_016864670.1:p.Lys2183Arg
XM_017009182.1:c.6548A>G	XP_016864671.1:p.Lys2183Arg
XM_017009183.1:c.6548A>G	XP_016864672.1:p.Lys2183Arg
XM_017009184.1:c.6548A>G	XP_016864673.1:p.Lys2183Arg
XM_017009185.1:c.1637A>G	XP_016864674.1:p.Lys546Arg
XM_017009186.1:c.1190A>G	XP_016864675.1:p.Lys397Arg
XM_017009187.1:c.6548A>G	XP_016864676.1:p.Lys2183Arg
XM_017009188.1:c.527A>G	XP_016864677.1:p.Lys176Arg
XM_024454388.1:c.5453A>G	XP_024310156.1:p.Lys1818Arg
XM_024454389.1:c.5042A>G	XP_024310157.1:p.Lys1681Arg
XR_001742034.1:n.6565A>G
XR_001742035.1:n.6565A>G
NM_001369.3:c.6440A>G MANE Select	NP_001360.1:p.Lys2147Arg