Canonical Allele Identifier: CA3203686

Gene: DNAH5

Linked Data

• dbSNP Id: rs762734279
• ExAC: 5:13841908 A / G
• gnomAD v2: 5-13841908-A-G
• gnomAD v4: 5-13841799-A-G
• MyVariant Identifiers: chr5:g.13841908A>G (hg19) ; chr5:g.13841799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841799A>G , CM000667.2:g.13841799A>G	GRCh38
NC_000005.9:g.13841908A>G , CM000667.1:g.13841908A>G	GRCh37
NC_000005.8:g.13894908A>G	NCBI36
NG_013081.1:g.107682T>C
NG_013081.2:g.107682T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5377T>C MANE Select	ENSP00000265104.4:p.Leu1793=
ENST00000681290.1:c.5332T>C	ENSP00000505288.1:p.Leu1778=
ENST00000265104.4:c.5377T>C	ENSP00000265104.4:p.Leu1793=
NM_001369.2:c.5377T>C	NP_001360.1:p.Leu1793=
XM_005248262.2:c.5332T>C	XP_005248319.1:p.Leu1778=
XM_011513990.1:c.5377T>C	XP_011512292.1:p.Leu1793=
XR_925598.1:n.5584T>C
XM_005248262.3:c.5485T>C	XP_005248319.2:p.Leu1829=
XM_017009177.1:c.5485T>C	XP_016864666.1:p.Leu1829=
XM_017009178.1:c.4390T>C	XP_016864667.1:p.Leu1464=
XM_017009179.2:c.4390T>C	XP_016864668.1:p.Leu1464=
XM_017009180.1:c.5485T>C	XP_016864669.1:p.Leu1829=
XM_017009181.1:c.5485T>C	XP_016864670.1:p.Leu1829=
XM_017009182.1:c.5485T>C	XP_016864671.1:p.Leu1829=
XM_017009183.1:c.5485T>C	XP_016864672.1:p.Leu1829=
XM_017009184.1:c.5485T>C	XP_016864673.1:p.Leu1829=
XM_017009185.1:c.574T>C	XP_016864674.1:p.Leu192=
XM_017009186.1:c.127T>C	XP_016864675.1:p.Leu43=
XM_017009187.1:c.5485T>C	XP_016864676.1:p.Leu1829=
XM_024454388.1:c.4390T>C	XP_024310156.1:p.Leu1464=
XM_024454389.1:c.3979T>C	XP_024310157.1:p.Leu1327=
XR_001742034.1:n.5502T>C
XR_001742035.1:n.5502T>C
NM_001369.3:c.5377T>C MANE Select	NP_001360.1:p.Leu1793=