Canonical Allele Identifier: CA359201391

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13768985-A-C
• MyVariant Identifiers: chr5:g.13769094A>C (hg19) ; chr5:g.13768985A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768985A>C , CM000667.2:g.13768985A>C	GRCh38
NC_000005.9:g.13769094A>C , CM000667.1:g.13769094A>C	GRCh37
NC_000005.8:g.13822094A>C	NCBI36
NG_013081.1:g.180496T>G
NG_013081.2:g.180496T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9872T>G MANE Select	ENSP00000265104.4:p.Leu3291Ter
ENST00000681290.1:c.9827T>G	ENSP00000505288.1:p.Leu3276Ter
ENST00000265104.4:c.9872T>G	ENSP00000265104.4:p.Leu3291Ter
ENST00000504001.3:n.584T>G
NM_001369.2:c.9872T>G	NP_001360.1:p.Leu3291Ter
XM_005248262.2:c.9827T>G	XP_005248319.1:p.Leu3276Ter
XM_005248262.3:c.9980T>G	XP_005248319.2:p.Leu3327Ter
XM_017009177.1:c.9980T>G	XP_016864666.1:p.Leu3327Ter
XM_017009178.1:c.8885T>G	XP_016864667.1:p.Leu2962Ter
XM_017009179.2:c.8885T>G	XP_016864668.1:p.Leu2962Ter
XM_017009180.1:c.9980T>G	XP_016864669.1:p.Leu3327Ter
XM_017009181.1:c.9980T>G	XP_016864670.1:p.Leu3327Ter
XM_017009182.1:c.9980T>G	XP_016864671.1:p.Leu3327Ter
XM_017009185.1:c.5069T>G	XP_016864674.1:p.Leu1690Ter
XM_017009186.1:c.4622T>G	XP_016864675.1:p.Leu1541Ter
XM_017009188.1:c.3959T>G	XP_016864677.1:p.Leu1320Ter
XM_024454388.1:c.8885T>G	XP_024310156.1:p.Leu2962Ter
XM_024454389.1:c.8474T>G	XP_024310157.1:p.Leu2825Ter
NM_001369.3:c.9872T>G MANE Select	NP_001360.1:p.Leu3291Ter