Canonical Allele Identifier: CA359219018

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1763200
• ClinVar RCV Id: RCV002434860
• dbSNP Id: rs1182948401
• MyVariant Identifiers: chr5:g.13792155C>G (hg19) ; chr5:g.13792046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792046C>G , CM000667.2:g.13792046C>G	GRCh38
NC_000005.9:g.13792155C>G , CM000667.1:g.13792155C>G	GRCh37
NC_000005.8:g.13845155C>G	NCBI36
NG_013081.1:g.157435G>C
NG_013081.2:g.157435G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8396G>C MANE Select	ENSP00000265104.4:p.Arg2799Pro
ENST00000681290.1:c.8351G>C	ENSP00000505288.1:p.Arg2784Pro
ENST00000265104.4:c.8396G>C	ENSP00000265104.4:p.Arg2799Pro
NM_001369.2:c.8396G>C	NP_001360.1:p.Arg2799Pro
XM_005248262.2:c.8351G>C	XP_005248319.1:p.Arg2784Pro
XM_011513990.1:c.8396G>C	XP_011512292.1:p.Arg2799Pro
XR_925598.1:n.8603G>C
XM_005248262.3:c.8504G>C	XP_005248319.2:p.Arg2835Pro
XM_017009177.1:c.8504G>C	XP_016864666.1:p.Arg2835Pro
XM_017009178.1:c.7409G>C	XP_016864667.1:p.Arg2470Pro
XM_017009179.2:c.7409G>C	XP_016864668.1:p.Arg2470Pro
XM_017009180.1:c.8504G>C	XP_016864669.1:p.Arg2835Pro
XM_017009181.1:c.8504G>C	XP_016864670.1:p.Arg2835Pro
XM_017009182.1:c.8504G>C	XP_016864671.1:p.Arg2835Pro
XM_017009183.1:c.8504G>C	XP_016864672.1:p.Arg2835Pro
XM_017009184.1:c.8504G>C	XP_016864673.1:p.Arg2835Pro
XM_017009185.1:c.3593G>C	XP_016864674.1:p.Arg1198Pro
XM_017009186.1:c.3146G>C	XP_016864675.1:p.Arg1049Pro
XM_017009188.1:c.2483G>C	XP_016864677.1:p.Arg828Pro
XM_024454388.1:c.7409G>C	XP_024310156.1:p.Arg2470Pro
XM_024454389.1:c.6998G>C	XP_024310157.1:p.Arg2333Pro
XR_001742034.1:n.8521G>C
XR_001742035.1:n.8521G>C
NM_001369.3:c.8396G>C MANE Select	NP_001360.1:p.Arg2799Pro