Canonical Allele Identifier: CA359208316

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776619T>C (hg19) ; chr5:g.13776510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776510T>C , CM000667.2:g.13776510T>C	GRCh38
NC_000005.9:g.13776619T>C , CM000667.1:g.13776619T>C	GRCh37
NC_000005.8:g.13829619T>C	NCBI36
NG_013081.1:g.172971A>G
NG_013081.2:g.172971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9302A>G MANE Select	ENSP00000265104.4:p.Lys3101Arg
ENST00000681290.1:c.9257A>G	ENSP00000505288.1:p.Lys3086Arg
ENST00000265104.4:c.9302A>G	ENSP00000265104.4:p.Lys3101Arg
NM_001369.2:c.9302A>G	NP_001360.1:p.Lys3101Arg
XM_005248262.2:c.9257A>G	XP_005248319.1:p.Lys3086Arg
XM_005248262.3:c.9410A>G	XP_005248319.2:p.Lys3137Arg
XM_017009177.1:c.9410A>G	XP_016864666.1:p.Lys3137Arg
XM_017009178.1:c.8315A>G	XP_016864667.1:p.Lys2772Arg
XM_017009179.2:c.8315A>G	XP_016864668.1:p.Lys2772Arg
XM_017009180.1:c.9410A>G	XP_016864669.1:p.Lys3137Arg
XM_017009181.1:c.9410A>G	XP_016864670.1:p.Lys3137Arg
XM_017009182.1:c.9410A>G	XP_016864671.1:p.Lys3137Arg
XM_017009183.1:c.9410A>G	XP_016864672.1:p.Lys3137Arg
XM_017009185.1:c.4499A>G	XP_016864674.1:p.Lys1500Arg
XM_017009186.1:c.4052A>G	XP_016864675.1:p.Lys1351Arg
XM_017009188.1:c.3389A>G	XP_016864677.1:p.Lys1130Arg
XM_024454388.1:c.8315A>G	XP_024310156.1:p.Lys2772Arg
XM_024454389.1:c.7904A>G	XP_024310157.1:p.Lys2635Arg
NM_001369.3:c.9302A>G MANE Select	NP_001360.1:p.Lys3101Arg