Canonical Allele Identifier: CA359196987

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708323A>C (hg19) ; chr5:g.13708214A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708214A>C , CM000667.2:g.13708214A>C	GRCh38
NC_000005.9:g.13708323A>C , CM000667.1:g.13708323A>C	GRCh37
NC_000005.8:g.13761323A>C	NCBI36
NG_013081.1:g.241267T>G
NG_013081.2:g.241267T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.580T>G
ENST00000265104.5:c.13247T>G MANE Select	ENSP00000265104.4:p.Leu4416Arg
ENST00000681290.1:c.13202T>G	ENSP00000505288.1:p.Leu4401Arg
ENST00000265104.4:c.13247T>G	ENSP00000265104.4:p.Leu4416Arg
NM_001369.2:c.13247T>G	NP_001360.1:p.Leu4416Arg
XM_005248262.2:c.13202T>G	XP_005248319.1:p.Leu4401Arg
XM_005248262.3:c.13355T>G	XP_005248319.2:p.Leu4452Arg
XM_017009177.1:c.12935T>G	XP_016864666.1:p.Leu4312Arg
XM_017009178.1:c.12260T>G	XP_016864667.1:p.Leu4087Arg
XM_017009179.2:c.12260T>G	XP_016864668.1:p.Leu4087Arg
XM_017009185.1:c.8444T>G	XP_016864674.1:p.Leu2815Arg
XM_017009186.1:c.7997T>G	XP_016864675.1:p.Leu2666Arg
XM_017009188.1:c.7334T>G	XP_016864677.1:p.Leu2445Arg
XM_024454388.1:c.12260T>G	XP_024310156.1:p.Leu4087Arg
XM_024454389.1:c.11849T>G	XP_024310157.1:p.Leu3950Arg
NM_001369.3:c.13247T>G MANE Select	NP_001360.1:p.Leu4416Arg