Canonical Allele Identifier: CA359188520

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692004-G-A
• MyVariant Identifiers: chr5:g.13692113G>A (hg19) ; chr5:g.13692004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692004G>A , CM000667.2:g.13692004G>A	GRCh38
NC_000005.9:g.13692113G>A , CM000667.1:g.13692113G>A	GRCh37
NC_000005.8:g.13745113G>A	NCBI36
NG_013081.1:g.257477C>T
NG_013081.2:g.257477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1188C>T
ENST00000265104.5:c.13855C>T MANE Select	ENSP00000265104.4:p.Leu4619Phe
ENST00000681290.1:c.13810C>T	ENSP00000505288.1:p.Leu4604Phe
ENST00000265104.4:c.13855C>T	ENSP00000265104.4:p.Leu4619Phe
NM_001369.2:c.13855C>T	NP_001360.1:p.Leu4619Phe
XM_005248262.2:c.13810C>T	XP_005248319.1:p.Leu4604Phe
XM_005248262.3:c.13963C>T	XP_005248319.2:p.Leu4655Phe
XM_017009177.1:c.13543C>T	XP_016864666.1:p.Leu4515Phe
XM_017009178.1:c.12868C>T	XP_016864667.1:p.Leu4290Phe
XM_017009179.2:c.12868C>T	XP_016864668.1:p.Leu4290Phe
XM_017009185.1:c.9052C>T	XP_016864674.1:p.Leu3018Phe
XM_017009186.1:c.8605C>T	XP_016864675.1:p.Leu2869Phe
XM_017009188.1:c.7942C>T	XP_016864677.1:p.Leu2648Phe
XM_024454388.1:c.12868C>T	XP_024310156.1:p.Leu4290Phe
XM_024454389.1:c.12457C>T	XP_024310157.1:p.Leu4153Phe
NM_001369.3:c.13855C>T MANE Select	NP_001360.1:p.Leu4619Phe