Canonical Allele Identifier: CA3204844

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351210
• ClinVar RCV Id: RCV000314410 ; RCV001246219
• dbSNP Id: rs189145014
• ExAC: 5:13913913 G / T
• gnomAD v2: 5-13913913-G-T
• gnomAD v3: 5-13913804-G-T
• gnomAD v4: 5-13913804-G-T
• MyVariant Identifiers: chr5:g.13913913G>T (hg19) ; chr5:g.13913804G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913804G>T , CM000667.2:g.13913804G>T	GRCh38
NC_000005.9:g.13913913G>T , CM000667.1:g.13913913G>T	GRCh37
NC_000005.8:g.13966913G>T	NCBI36
NG_013081.1:g.35677C>A
NG_013081.2:g.35677C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1531C>A
ENST00000682376.1:n.5704C>A
ENST00000683011.1:n.1414C>A
ENST00000683967.1:n.3840C>A
ENST00000684013.1:n.2135C>A
ENST00000684099.1:n.2131C>A
ENST00000265104.5:c.1475C>A MANE Select	ENSP00000265104.4:p.Thr492Lys
ENST00000680213.1:c.1235C>A	ENSP00000506622.1:p.Thr412Lys
ENST00000681290.1:c.1430C>A	ENSP00000505288.1:p.Thr477Lys
ENST00000265104.4:c.1475C>A	ENSP00000265104.4:p.Thr492Lys
ENST00000508040.1:n.1883C>A
NM_001369.2:c.1475C>A	NP_001360.1:p.Thr492Lys
XM_005248262.2:c.1430C>A	XP_005248319.1:p.Thr477Lys
XM_011513990.1:c.1475C>A	XP_011512292.1:p.Thr492Lys
XR_925598.1:n.1682C>A
XM_005248262.3:c.1583C>A	XP_005248319.2:p.Thr528Lys
XM_017009177.1:c.1583C>A	XP_016864666.1:p.Thr528Lys
XM_017009178.1:c.488C>A	XP_016864667.1:p.Thr163Lys
XM_017009179.2:c.488C>A	XP_016864668.1:p.Thr163Lys
XM_017009180.1:c.1583C>A	XP_016864669.1:p.Thr528Lys
XM_017009181.1:c.1583C>A	XP_016864670.1:p.Thr528Lys
XM_017009182.1:c.1583C>A	XP_016864671.1:p.Thr528Lys
XM_017009183.1:c.1583C>A	XP_016864672.1:p.Thr528Lys
XM_017009184.1:c.1583C>A	XP_016864673.1:p.Thr528Lys
XM_017009187.1:c.1583C>A	XP_016864676.1:p.Thr528Lys
XM_024454388.1:c.488C>A	XP_024310156.1:p.Thr163Lys
XM_024454389.1:c.77C>A	XP_024310157.1:p.Thr26Lys
XR_001742034.1:n.1600C>A
XR_001742035.1:n.1600C>A
NM_001369.3:c.1475C>A MANE Select	NP_001360.1:p.Thr492Lys