Canonical Allele Identifier: CA359219265

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13792215A>C (hg19) ; chr5:g.13792106A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792106A>C , CM000667.2:g.13792106A>C	GRCh38
NC_000005.9:g.13792215A>C , CM000667.1:g.13792215A>C	GRCh37
NC_000005.8:g.13845215A>C	NCBI36
NG_013081.1:g.157375T>G
NG_013081.2:g.157375T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8336T>G MANE Select	ENSP00000265104.4:p.Ile2779Ser
ENST00000681290.1:c.8291T>G	ENSP00000505288.1:p.Ile2764Ser
ENST00000265104.4:c.8336T>G	ENSP00000265104.4:p.Ile2779Ser
NM_001369.2:c.8336T>G	NP_001360.1:p.Ile2779Ser
XM_005248262.2:c.8291T>G	XP_005248319.1:p.Ile2764Ser
XM_011513990.1:c.8336T>G	XP_011512292.1:p.Ile2779Ser
XR_925598.1:n.8543T>G
XM_005248262.3:c.8444T>G	XP_005248319.2:p.Ile2815Ser
XM_017009177.1:c.8444T>G	XP_016864666.1:p.Ile2815Ser
XM_017009178.1:c.7349T>G	XP_016864667.1:p.Ile2450Ser
XM_017009179.2:c.7349T>G	XP_016864668.1:p.Ile2450Ser
XM_017009180.1:c.8444T>G	XP_016864669.1:p.Ile2815Ser
XM_017009181.1:c.8444T>G	XP_016864670.1:p.Ile2815Ser
XM_017009182.1:c.8444T>G	XP_016864671.1:p.Ile2815Ser
XM_017009183.1:c.8444T>G	XP_016864672.1:p.Ile2815Ser
XM_017009184.1:c.8444T>G	XP_016864673.1:p.Ile2815Ser
XM_017009185.1:c.3533T>G	XP_016864674.1:p.Ile1178Ser
XM_017009186.1:c.3086T>G	XP_016864675.1:p.Ile1029Ser
XM_017009188.1:c.2423T>G	XP_016864677.1:p.Ile808Ser
XM_024454388.1:c.7349T>G	XP_024310156.1:p.Ile2450Ser
XM_024454389.1:c.6938T>G	XP_024310157.1:p.Ile2313Ser
XR_001742034.1:n.8461T>G
XR_001742035.1:n.8461T>G
NM_001369.3:c.8336T>G MANE Select	NP_001360.1:p.Ile2779Ser