Canonical Allele Identifier: CA3202697

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 904943
• ClinVar RCV Id: RCV001153169 ; RCV002557297
• dbSNP Id: rs150899380
• ExAC: 5:13781053 G / A
• gnomAD v2: 5-13781053-G-A
• gnomAD v3: 5-13780944-G-A
• gnomAD v4: 5-13780944-G-A
• MyVariant Identifiers: chr5:g.13781053G>A (hg19) ; chr5:g.13780944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780944G>A , CM000667.2:g.13780944G>A	GRCh38
NC_000005.9:g.13781053G>A , CM000667.1:g.13781053G>A	GRCh37
NC_000005.8:g.13834053G>A	NCBI36
NG_013081.1:g.168537C>T
NG_013081.2:g.168537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8836C>T MANE Select	ENSP00000265104.4:p.Arg2946Cys
ENST00000681290.1:c.8791C>T	ENSP00000505288.1:p.Arg2931Cys
ENST00000265104.4:c.8836C>T	ENSP00000265104.4:p.Arg2946Cys
NM_001369.2:c.8836C>T	NP_001360.1:p.Arg2946Cys
XM_005248262.2:c.8791C>T	XP_005248319.1:p.Arg2931Cys
XM_011513990.1:c.8836C>T	XP_011512292.1:p.Arg2946Cys
XR_925598.1:n.9028-3589C>T
XM_005248262.3:c.8944C>T	XP_005248319.2:p.Arg2982Cys
XM_017009177.1:c.8944C>T	XP_016864666.1:p.Arg2982Cys
XM_017009178.1:c.7849C>T	XP_016864667.1:p.Arg2617Cys
XM_017009179.2:c.7849C>T	XP_016864668.1:p.Arg2617Cys
XM_017009180.1:c.8944C>T	XP_016864669.1:p.Arg2982Cys
XM_017009181.1:c.8944C>T	XP_016864670.1:p.Arg2982Cys
XM_017009182.1:c.8944C>T	XP_016864671.1:p.Arg2982Cys
XM_017009183.1:c.8944C>T	XP_016864672.1:p.Arg2982Cys
XM_017009184.1:c.8944C>T	XP_016864673.1:p.Arg2982Cys
XM_017009185.1:c.4033C>T	XP_016864674.1:p.Arg1345Cys
XM_017009186.1:c.3586C>T	XP_016864675.1:p.Arg1196Cys
XM_017009188.1:c.2923C>T	XP_016864677.1:p.Arg975Cys
XM_024454388.1:c.7849C>T	XP_024310156.1:p.Arg2617Cys
XM_024454389.1:c.7438C>T	XP_024310157.1:p.Arg2480Cys
XR_001742034.1:n.8946-3589C>T
XR_001742035.1:n.8946-3589C>T
NM_001369.3:c.8836C>T MANE Select	NP_001360.1:p.Arg2946Cys