Canonical Allele Identifier: CA3201580

Gene: DNAH5

Linked Data

• dbSNP Id: rs751567040
• ExAC: 5:13717500 T / C
• gnomAD v2: 5-13717500-T-C
• gnomAD v3: 5-13717391-T-C
• gnomAD v4: 5-13717391-T-C
• MyVariant Identifiers: chr5:g.13717500T>C (hg19) ; chr5:g.13717391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717391T>C , CM000667.2:g.13717391T>C	GRCh38
NC_000005.9:g.13717500T>C , CM000667.1:g.13717500T>C	GRCh37
NC_000005.8:g.13770500T>C	NCBI36
NG_013081.1:g.232090A>G
NG_013081.2:g.232090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12629A>G MANE Select	ENSP00000265104.4:p.Tyr4210Cys
ENST00000681290.1:c.12584A>G	ENSP00000505288.1:p.Tyr4195Cys
ENST00000265104.4:c.12629A>G	ENSP00000265104.4:p.Tyr4210Cys
NM_001369.2:c.12629A>G	NP_001360.1:p.Tyr4210Cys
XM_005248262.2:c.12584A>G	XP_005248319.1:p.Tyr4195Cys
XM_005248262.3:c.12737A>G	XP_005248319.2:p.Tyr4246Cys
XM_017009177.1:c.12737A>G	XP_016864666.1:p.Tyr4246Cys
XM_017009178.1:c.11642A>G	XP_016864667.1:p.Tyr3881Cys
XM_017009179.2:c.11642A>G	XP_016864668.1:p.Tyr3881Cys
XM_017009180.1:c.12737A>G	XP_016864669.1:p.Tyr4246Cys
XM_017009185.1:c.7826A>G	XP_016864674.1:p.Tyr2609Cys
XM_017009186.1:c.7379A>G	XP_016864675.1:p.Tyr2460Cys
XM_017009188.1:c.6716A>G	XP_016864677.1:p.Tyr2239Cys
XM_024454388.1:c.11642A>G	XP_024310156.1:p.Tyr3881Cys
XM_024454389.1:c.11231A>G	XP_024310157.1:p.Tyr3744Cys
NM_001369.3:c.12629A>G MANE Select	NP_001360.1:p.Tyr4210Cys