Canonical Allele Identifier: CA359233389

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454764
• ClinVar RCV Id: RCV000524800 ; RCV004526697
• dbSNP Id: rs1554085372
• gnomAD v4: 5-13871747-C-G
• MyVariant Identifiers: chr5:g.13871856C>G (hg19) ; chr5:g.13871747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13871747C>G , CM000667.2:g.13871747C>G	GRCh38
NC_000005.9:g.13871856C>G , CM000667.1:g.13871856C>G	GRCh37
NC_000005.8:g.13924856C>G	NCBI36
NG_013081.1:g.77734G>C
NG_013081.2:g.77734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3415G>C MANE Select	ENSP00000265104.4:p.Asp1139His
ENST00000681290.1:c.3370G>C	ENSP00000505288.1:p.Asp1124His
ENST00000265104.4:c.3415G>C	ENSP00000265104.4:p.Asp1139His
NM_001369.2:c.3415G>C	NP_001360.1:p.Asp1139His
XM_005248262.2:c.3370G>C	XP_005248319.1:p.Asp1124His
XM_011513990.1:c.3415G>C	XP_011512292.1:p.Asp1139His
XR_925598.1:n.3622G>C
XM_005248262.3:c.3523G>C	XP_005248319.2:p.Asp1175His
XM_017009177.1:c.3523G>C	XP_016864666.1:p.Asp1175His
XM_017009178.1:c.2428G>C	XP_016864667.1:p.Asp810His
XM_017009179.2:c.2428G>C	XP_016864668.1:p.Asp810His
XM_017009180.1:c.3523G>C	XP_016864669.1:p.Asp1175His
XM_017009181.1:c.3523G>C	XP_016864670.1:p.Asp1175His
XM_017009182.1:c.3523G>C	XP_016864671.1:p.Asp1175His
XM_017009183.1:c.3523G>C	XP_016864672.1:p.Asp1175His
XM_017009184.1:c.3523G>C	XP_016864673.1:p.Asp1175His
XM_017009187.1:c.3523G>C	XP_016864676.1:p.Asp1175His
XM_024454388.1:c.2428G>C	XP_024310156.1:p.Asp810His
XM_024454389.1:c.2017G>C	XP_024310157.1:p.Asp673His
XR_001742034.1:n.3540G>C
XR_001742035.1:n.3540G>C
NM_001369.3:c.3415G>C MANE Select	NP_001360.1:p.Asp1139His