Canonical Allele Identifier: CA359207980

Gene: DNAH5

Linked Data

• COSMIC: COSM1157811
• MyVariant Identifiers: chr5:g.13776578T>C (hg19) ; chr5:g.13776469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776469T>C , CM000667.2:g.13776469T>C	GRCh38
NC_000005.9:g.13776578T>C , CM000667.1:g.13776578T>C	GRCh37
NC_000005.8:g.13829578T>C	NCBI36
NG_013081.1:g.173012A>G
NG_013081.2:g.173012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9343A>G MANE Select	ENSP00000265104.4:p.Ser3115Gly
ENST00000681290.1:c.9298A>G	ENSP00000505288.1:p.Ser3100Gly
ENST00000265104.4:c.9343A>G	ENSP00000265104.4:p.Ser3115Gly
NM_001369.2:c.9343A>G	NP_001360.1:p.Ser3115Gly
XM_005248262.2:c.9298A>G	XP_005248319.1:p.Ser3100Gly
XM_005248262.3:c.9451A>G	XP_005248319.2:p.Ser3151Gly
XM_017009177.1:c.9451A>G	XP_016864666.1:p.Ser3151Gly
XM_017009178.1:c.8356A>G	XP_016864667.1:p.Ser2786Gly
XM_017009179.2:c.8356A>G	XP_016864668.1:p.Ser2786Gly
XM_017009180.1:c.9451A>G	XP_016864669.1:p.Ser3151Gly
XM_017009181.1:c.9451A>G	XP_016864670.1:p.Ser3151Gly
XM_017009182.1:c.9451A>G	XP_016864671.1:p.Ser3151Gly
XM_017009183.1:c.9451A>G	XP_016864672.1:p.Ser3151Gly
XM_017009185.1:c.4540A>G	XP_016864674.1:p.Ser1514Gly
XM_017009186.1:c.4093A>G	XP_016864675.1:p.Ser1365Gly
XM_017009188.1:c.3430A>G	XP_016864677.1:p.Ser1144Gly
XM_024454388.1:c.8356A>G	XP_024310156.1:p.Ser2786Gly
XM_024454389.1:c.7945A>G	XP_024310157.1:p.Ser2649Gly
NM_001369.3:c.9343A>G MANE Select	NP_001360.1:p.Ser3115Gly