Canonical Allele Identifier: CA3204520

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2158984
• ClinVar RCV Id: RCV003072581
• dbSNP Id: rs745595467
• ExAC: 5:13886116 T / G
• gnomAD v2: 5-13886116-T-G
• gnomAD v4: 5-13886007-T-G
• MyVariant Identifiers: chr5:g.13886116T>G (hg19) ; chr5:g.13886007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13886007T>G , CM000667.2:g.13886007T>G	GRCh38
NC_000005.9:g.13886116T>G , CM000667.1:g.13886116T>G	GRCh37
NC_000005.8:g.13939116T>G	NCBI36
NG_013081.1:g.63474A>C
NG_013081.2:g.63474A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2700A>C MANE Select	ENSP00000265104.4:p.Lys900Asn
ENST00000681290.1:c.2655A>C	ENSP00000505288.1:p.Lys885Asn
ENST00000265104.4:c.2700A>C	ENSP00000265104.4:p.Lys900Asn
NM_001369.2:c.2700A>C	NP_001360.1:p.Lys900Asn
XM_005248262.2:c.2655A>C	XP_005248319.1:p.Lys885Asn
XM_011513990.1:c.2700A>C	XP_011512292.1:p.Lys900Asn
XR_925598.1:n.2907A>C
XM_005248262.3:c.2808A>C	XP_005248319.2:p.Lys936Asn
XM_017009177.1:c.2808A>C	XP_016864666.1:p.Lys936Asn
XM_017009178.1:c.1713A>C	XP_016864667.1:p.Lys571Asn
XM_017009179.2:c.1713A>C	XP_016864668.1:p.Lys571Asn
XM_017009180.1:c.2808A>C	XP_016864669.1:p.Lys936Asn
XM_017009181.1:c.2808A>C	XP_016864670.1:p.Lys936Asn
XM_017009182.1:c.2808A>C	XP_016864671.1:p.Lys936Asn
XM_017009183.1:c.2808A>C	XP_016864672.1:p.Lys936Asn
XM_017009184.1:c.2808A>C	XP_016864673.1:p.Lys936Asn
XM_017009187.1:c.2808A>C	XP_016864676.1:p.Lys936Asn
XM_024454388.1:c.1713A>C	XP_024310156.1:p.Lys571Asn
XM_024454389.1:c.1302A>C	XP_024310157.1:p.Lys434Asn
XR_001742034.1:n.2825A>C
XR_001742035.1:n.2825A>C
NM_001369.3:c.2700A>C MANE Select	NP_001360.1:p.Lys900Asn