Canonical Allele Identifier: CA359207280

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717518A>C (hg19) ; chr5:g.13717409A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717409A>C , CM000667.2:g.13717409A>C	GRCh38
NC_000005.9:g.13717518A>C , CM000667.1:g.13717518A>C	GRCh37
NC_000005.8:g.13770518A>C	NCBI36
NG_013081.1:g.232072T>G
NG_013081.2:g.232072T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12611T>G MANE Select	ENSP00000265104.4:p.Leu4204Arg
ENST00000681290.1:c.12566T>G	ENSP00000505288.1:p.Leu4189Arg
ENST00000265104.4:c.12611T>G	ENSP00000265104.4:p.Leu4204Arg
NM_001369.2:c.12611T>G	NP_001360.1:p.Leu4204Arg
XM_005248262.2:c.12566T>G	XP_005248319.1:p.Leu4189Arg
XM_005248262.3:c.12719T>G	XP_005248319.2:p.Leu4240Arg
XM_017009177.1:c.12719T>G	XP_016864666.1:p.Leu4240Arg
XM_017009178.1:c.11624T>G	XP_016864667.1:p.Leu3875Arg
XM_017009179.2:c.11624T>G	XP_016864668.1:p.Leu3875Arg
XM_017009180.1:c.12719T>G	XP_016864669.1:p.Leu4240Arg
XM_017009185.1:c.7808T>G	XP_016864674.1:p.Leu2603Arg
XM_017009186.1:c.7361T>G	XP_016864675.1:p.Leu2454Arg
XM_017009188.1:c.6698T>G	XP_016864677.1:p.Leu2233Arg
XM_024454388.1:c.11624T>G	XP_024310156.1:p.Leu3875Arg
XM_024454389.1:c.11213T>G	XP_024310157.1:p.Leu3738Arg
NM_001369.3:c.12611T>G MANE Select	NP_001360.1:p.Leu4204Arg