Canonical Allele Identifier: CA359188668

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692184A>C (hg19) ; chr5:g.13692075A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692075A>C , CM000667.2:g.13692075A>C	GRCh38
NC_000005.9:g.13692184A>C , CM000667.1:g.13692184A>C	GRCh37
NC_000005.8:g.13745184A>C	NCBI36
NG_013081.1:g.257406T>G
NG_013081.2:g.257406T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1117T>G
ENST00000265104.5:c.13784T>G MANE Select	ENSP00000265104.4:p.Leu4595Trp
ENST00000681290.1:c.13739T>G	ENSP00000505288.1:p.Leu4580Trp
ENST00000265104.4:c.13784T>G	ENSP00000265104.4:p.Leu4595Trp
NM_001369.2:c.13784T>G	NP_001360.1:p.Leu4595Trp
XM_005248262.2:c.13739T>G	XP_005248319.1:p.Leu4580Trp
XM_005248262.3:c.13892T>G	XP_005248319.2:p.Leu4631Trp
XM_017009177.1:c.13472T>G	XP_016864666.1:p.Leu4491Trp
XM_017009178.1:c.12797T>G	XP_016864667.1:p.Leu4266Trp
XM_017009179.2:c.12797T>G	XP_016864668.1:p.Leu4266Trp
XM_017009185.1:c.8981T>G	XP_016864674.1:p.Leu2994Trp
XM_017009186.1:c.8534T>G	XP_016864675.1:p.Leu2845Trp
XM_017009188.1:c.7871T>G	XP_016864677.1:p.Leu2624Trp
XM_024454388.1:c.12797T>G	XP_024310156.1:p.Leu4266Trp
XM_024454389.1:c.12386T>G	XP_024310157.1:p.Leu4129Trp
NM_001369.3:c.13784T>G MANE Select	NP_001360.1:p.Leu4595Trp