Canonical Allele Identifier: CA3202695

Gene: DNAH5

Linked Data

• dbSNP Id: rs754038663
• ExAC: 5:13781051 A / G
• gnomAD v2: 5-13781051-A-G
• MyVariant Identifiers: chr5:g.13781051A>G (hg19) ; chr5:g.13780942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780942A>G , CM000667.2:g.13780942A>G	GRCh38
NC_000005.9:g.13781051A>G , CM000667.1:g.13781051A>G	GRCh37
NC_000005.8:g.13834051A>G	NCBI36
NG_013081.1:g.168539T>C
NG_013081.2:g.168539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8838T>C MANE Select	ENSP00000265104.4:p.Arg2946=
ENST00000681290.1:c.8793T>C	ENSP00000505288.1:p.Arg2931=
ENST00000265104.4:c.8838T>C	ENSP00000265104.4:p.Arg2946=
NM_001369.2:c.8838T>C	NP_001360.1:p.Arg2946=
XM_005248262.2:c.8793T>C	XP_005248319.1:p.Arg2931=
XM_011513990.1:c.8838T>C	XP_011512292.1:p.Arg2946=
XR_925598.1:n.9028-3587T>C
XM_005248262.3:c.8946T>C	XP_005248319.2:p.Arg2982=
XM_017009177.1:c.8946T>C	XP_016864666.1:p.Arg2982=
XM_017009178.1:c.7851T>C	XP_016864667.1:p.Arg2617=
XM_017009179.2:c.7851T>C	XP_016864668.1:p.Arg2617=
XM_017009180.1:c.8946T>C	XP_016864669.1:p.Arg2982=
XM_017009181.1:c.8946T>C	XP_016864670.1:p.Arg2982=
XM_017009182.1:c.8946T>C	XP_016864671.1:p.Arg2982=
XM_017009183.1:c.8946T>C	XP_016864672.1:p.Arg2982=
XM_017009184.1:c.8946T>C	XP_016864673.1:p.Arg2982=
XM_017009185.1:c.4035T>C	XP_016864674.1:p.Arg1345=
XM_017009186.1:c.3588T>C	XP_016864675.1:p.Arg1196=
XM_017009188.1:c.2925T>C	XP_016864677.1:p.Arg975=
XM_024454388.1:c.7851T>C	XP_024310156.1:p.Arg2617=
XM_024454389.1:c.7440T>C	XP_024310157.1:p.Arg2480=
XR_001742034.1:n.8946-3587T>C
XR_001742035.1:n.8946-3587T>C
NM_001369.3:c.8838T>C MANE Select	NP_001360.1:p.Arg2946=