Canonical Allele Identifier: CA3202847

Gene: DNAH5

Linked Data

• dbSNP Id: rs777499017
• ExAC: 5:13792243 T / C
• gnomAD v2: 5-13792243-T-C
• MyVariant Identifiers: chr5:g.13792243T>C (hg19) ; chr5:g.13792134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792134T>C , CM000667.2:g.13792134T>C	GRCh38
NC_000005.9:g.13792243T>C , CM000667.1:g.13792243T>C	GRCh37
NC_000005.8:g.13845243T>C	NCBI36
NG_013081.1:g.157347A>G
NG_013081.2:g.157347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8308A>G MANE Select	ENSP00000265104.4:p.Thr2770Ala
ENST00000681290.1:c.8263A>G	ENSP00000505288.1:p.Thr2755Ala
ENST00000265104.4:c.8308A>G	ENSP00000265104.4:p.Thr2770Ala
NM_001369.2:c.8308A>G	NP_001360.1:p.Thr2770Ala
XM_005248262.2:c.8263A>G	XP_005248319.1:p.Thr2755Ala
XM_011513990.1:c.8308A>G	XP_011512292.1:p.Thr2770Ala
XR_925598.1:n.8515A>G
XM_005248262.3:c.8416A>G	XP_005248319.2:p.Thr2806Ala
XM_017009177.1:c.8416A>G	XP_016864666.1:p.Thr2806Ala
XM_017009178.1:c.7321A>G	XP_016864667.1:p.Thr2441Ala
XM_017009179.2:c.7321A>G	XP_016864668.1:p.Thr2441Ala
XM_017009180.1:c.8416A>G	XP_016864669.1:p.Thr2806Ala
XM_017009181.1:c.8416A>G	XP_016864670.1:p.Thr2806Ala
XM_017009182.1:c.8416A>G	XP_016864671.1:p.Thr2806Ala
XM_017009183.1:c.8416A>G	XP_016864672.1:p.Thr2806Ala
XM_017009184.1:c.8416A>G	XP_016864673.1:p.Thr2806Ala
XM_017009185.1:c.3505A>G	XP_016864674.1:p.Thr1169Ala
XM_017009186.1:c.3058A>G	XP_016864675.1:p.Thr1020Ala
XM_017009188.1:c.2395A>G	XP_016864677.1:p.Thr799Ala
XM_024454388.1:c.7321A>G	XP_024310156.1:p.Thr2441Ala
XM_024454389.1:c.6910A>G	XP_024310157.1:p.Thr2304Ala
XR_001742034.1:n.8433A>G
XR_001742035.1:n.8433A>G
NM_001369.3:c.8308A>G MANE Select	NP_001360.1:p.Thr2770Ala