Canonical Allele Identifier: CA359221063

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 970267
• ClinVar RCV Id: RCV001245811
• dbSNP Id: rs1469012975
• gnomAD v2: 5-13793664-A-C
• gnomAD v3: 5-13793555-A-C
• gnomAD v4: 5-13793555-A-C
• MyVariant Identifiers: chr5:g.13793664A>C (hg19) ; chr5:g.13793555A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793555A>C , CM000667.2:g.13793555A>C	GRCh38
NC_000005.9:g.13793664A>C , CM000667.1:g.13793664A>C	GRCh37
NC_000005.8:g.13846664A>C	NCBI36
NG_013081.1:g.155926T>G
NG_013081.2:g.155926T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8184T>G MANE Select	ENSP00000265104.4:p.Asn2728Lys
ENST00000681290.1:c.8139T>G	ENSP00000505288.1:p.Asn2713Lys
ENST00000265104.4:c.8184T>G	ENSP00000265104.4:p.Asn2728Lys
NM_001369.2:c.8184T>G	NP_001360.1:p.Asn2728Lys
XM_005248262.2:c.8139T>G	XP_005248319.1:p.Asn2713Lys
XM_011513990.1:c.8184T>G	XP_011512292.1:p.Asn2728Lys
XR_925598.1:n.8391T>G
XM_005248262.3:c.8292T>G	XP_005248319.2:p.Asn2764Lys
XM_017009177.1:c.8292T>G	XP_016864666.1:p.Asn2764Lys
XM_017009178.1:c.7197T>G	XP_016864667.1:p.Asn2399Lys
XM_017009179.2:c.7197T>G	XP_016864668.1:p.Asn2399Lys
XM_017009180.1:c.8292T>G	XP_016864669.1:p.Asn2764Lys
XM_017009181.1:c.8292T>G	XP_016864670.1:p.Asn2764Lys
XM_017009182.1:c.8292T>G	XP_016864671.1:p.Asn2764Lys
XM_017009183.1:c.8292T>G	XP_016864672.1:p.Asn2764Lys
XM_017009184.1:c.8292T>G	XP_016864673.1:p.Asn2764Lys
XM_017009185.1:c.3381T>G	XP_016864674.1:p.Asn1127Lys
XM_017009186.1:c.2934T>G	XP_016864675.1:p.Asn978Lys
XM_017009188.1:c.2271T>G	XP_016864677.1:p.Asn757Lys
XM_024454388.1:c.7197T>G	XP_024310156.1:p.Asn2399Lys
XM_024454389.1:c.6786T>G	XP_024310157.1:p.Asn2262Lys
XR_001742034.1:n.8309T>G
XR_001742035.1:n.8309T>G
NM_001369.3:c.8184T>G MANE Select	NP_001360.1:p.Asn2728Lys