Canonical Allele Identifier: CA3202607

Gene: DNAH5

Linked Data

• dbSNP Id: rs760595654
• ExAC: 5:13776797 G / C
• gnomAD v2: 5-13776797-G-C
• gnomAD v4: 5-13776688-G-C
• MyVariant Identifiers: chr5:g.13776797G>C (hg19) ; chr5:g.13776688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776688G>C , CM000667.2:g.13776688G>C	GRCh38
NC_000005.9:g.13776797G>C , CM000667.1:g.13776797G>C	GRCh37
NC_000005.8:g.13829797G>C	NCBI36
NG_013081.1:g.172793C>G
NG_013081.2:g.172793C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9124C>G MANE Select	ENSP00000265104.4:p.Arg3042Gly
ENST00000681290.1:c.9079C>G	ENSP00000505288.1:p.Arg3027Gly
ENST00000265104.4:c.9124C>G	ENSP00000265104.4:p.Arg3042Gly
NM_001369.2:c.9124C>G	NP_001360.1:p.Arg3042Gly
XM_005248262.2:c.9079C>G	XP_005248319.1:p.Arg3027Gly
XM_011513990.1:c.*11C>G	XP_011512292.1:n.*11C>G
XR_925598.1:n.9195C>G
XM_005248262.3:c.9232C>G	XP_005248319.2:p.Arg3078Gly
XM_017009177.1:c.9232C>G	XP_016864666.1:p.Arg3078Gly
XM_017009178.1:c.8137C>G	XP_016864667.1:p.Arg2713Gly
XM_017009179.2:c.8137C>G	XP_016864668.1:p.Arg2713Gly
XM_017009180.1:c.9232C>G	XP_016864669.1:p.Arg3078Gly
XM_017009181.1:c.9232C>G	XP_016864670.1:p.Arg3078Gly
XM_017009182.1:c.9232C>G	XP_016864671.1:p.Arg3078Gly
XM_017009183.1:c.9232C>G	XP_016864672.1:p.Arg3078Gly
XM_017009184.1:c.*11C>G	XP_016864673.1:n.*11C>G
XM_017009185.1:c.4321C>G	XP_016864674.1:p.Arg1441Gly
XM_017009186.1:c.3874C>G	XP_016864675.1:p.Arg1292Gly
XM_017009188.1:c.3211C>G	XP_016864677.1:p.Arg1071Gly
XM_024454388.1:c.8137C>G	XP_024310156.1:p.Arg2713Gly
XM_024454389.1:c.7726C>G	XP_024310157.1:p.Arg2576Gly
XR_001742034.1:n.9118C>G
XR_001742035.1:n.9113C>G
NM_001369.3:c.9124C>G MANE Select	NP_001360.1:p.Arg3042Gly