Canonical Allele Identifier: CA359190091

Gene: DNAH5

Linked Data

• COSMIC: COSM6169071
• MyVariant Identifiers: chr5:g.13876872T>C (hg19) ; chr5:g.13876763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13876763T>C , CM000667.2:g.13876763T>C	GRCh38
NC_000005.9:g.13876872T>C , CM000667.1:g.13876872T>C	GRCh37
NC_000005.8:g.13929872T>C	NCBI36
NG_013081.1:g.72718A>G
NG_013081.2:g.72718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3317A>G MANE Select	ENSP00000265104.4:p.Tyr1106Cys
ENST00000681290.1:c.3272A>G	ENSP00000505288.1:p.Tyr1091Cys
ENST00000265104.4:c.3317A>G	ENSP00000265104.4:p.Tyr1106Cys
NM_001369.2:c.3317A>G	NP_001360.1:p.Tyr1106Cys
XM_005248262.2:c.3272A>G	XP_005248319.1:p.Tyr1091Cys
XM_011513990.1:c.3317A>G	XP_011512292.1:p.Tyr1106Cys
XR_925598.1:n.3524A>G
XM_005248262.3:c.3425A>G	XP_005248319.2:p.Tyr1142Cys
XM_017009177.1:c.3425A>G	XP_016864666.1:p.Tyr1142Cys
XM_017009178.1:c.2330A>G	XP_016864667.1:p.Tyr777Cys
XM_017009179.2:c.2330A>G	XP_016864668.1:p.Tyr777Cys
XM_017009180.1:c.3425A>G	XP_016864669.1:p.Tyr1142Cys
XM_017009181.1:c.3425A>G	XP_016864670.1:p.Tyr1142Cys
XM_017009182.1:c.3425A>G	XP_016864671.1:p.Tyr1142Cys
XM_017009183.1:c.3425A>G	XP_016864672.1:p.Tyr1142Cys
XM_017009184.1:c.3425A>G	XP_016864673.1:p.Tyr1142Cys
XM_017009187.1:c.3425A>G	XP_016864676.1:p.Tyr1142Cys
XM_024454388.1:c.2330A>G	XP_024310156.1:p.Tyr777Cys
XM_024454389.1:c.1919A>G	XP_024310157.1:p.Tyr640Cys
XR_001742034.1:n.3442A>G
XR_001742035.1:n.3442A>G
NM_001369.3:c.3317A>G MANE Select	NP_001360.1:p.Tyr1106Cys