Canonical Allele Identifier: CA3202685

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2183956
• ClinVar RCV Id: RCV002599876
• dbSNP Id: rs759756803
• ExAC: 5:13781026 C / G
• gnomAD v2: 5-13781026-C-G
• gnomAD v3: 5-13780917-C-G
• gnomAD v4: 5-13780917-C-G
• MyVariant Identifiers: chr5:g.13781026C>G (hg19) ; chr5:g.13780917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780917C>G , CM000667.2:g.13780917C>G	GRCh38
NC_000005.9:g.13781026C>G , CM000667.1:g.13781026C>G	GRCh37
NC_000005.8:g.13834026C>G	NCBI36
NG_013081.1:g.168564G>C
NG_013081.2:g.168564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8863G>C MANE Select	ENSP00000265104.4:p.Val2955Leu
ENST00000681290.1:c.8818G>C	ENSP00000505288.1:p.Val2940Leu
ENST00000265104.4:c.8863G>C	ENSP00000265104.4:p.Val2955Leu
NM_001369.2:c.8863G>C	NP_001360.1:p.Val2955Leu
XM_005248262.2:c.8818G>C	XP_005248319.1:p.Val2940Leu
XM_011513990.1:c.8863G>C	XP_011512292.1:p.Val2955Leu
XR_925598.1:n.9028-3562G>C
XM_005248262.3:c.8971G>C	XP_005248319.2:p.Val2991Leu
XM_017009177.1:c.8971G>C	XP_016864666.1:p.Val2991Leu
XM_017009178.1:c.7876G>C	XP_016864667.1:p.Val2626Leu
XM_017009179.2:c.7876G>C	XP_016864668.1:p.Val2626Leu
XM_017009180.1:c.8971G>C	XP_016864669.1:p.Val2991Leu
XM_017009181.1:c.8971G>C	XP_016864670.1:p.Val2991Leu
XM_017009182.1:c.8971G>C	XP_016864671.1:p.Val2991Leu
XM_017009183.1:c.8971G>C	XP_016864672.1:p.Val2991Leu
XM_017009184.1:c.8971G>C	XP_016864673.1:p.Val2991Leu
XM_017009185.1:c.4060G>C	XP_016864674.1:p.Val1354Leu
XM_017009186.1:c.3613G>C	XP_016864675.1:p.Val1205Leu
XM_017009188.1:c.2950G>C	XP_016864677.1:p.Val984Leu
XM_024454388.1:c.7876G>C	XP_024310156.1:p.Val2626Leu
XM_024454389.1:c.7465G>C	XP_024310157.1:p.Val2489Leu
XR_001742034.1:n.8946-3562G>C
XR_001742035.1:n.8946-3562G>C
NM_001369.3:c.8863G>C MANE Select	NP_001360.1:p.Val2955Leu