Canonical Allele Identifier: CA113905435

Gene: DNAH5

Linked Data

• dbSNP Id: rs201246418
• gnomAD v4: 5-13691986-A-C
• COSMIC: COSM3138822
• MyVariant Identifiers: chr5:g.13692095A>C (hg19) ; chr5:g.13691986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691986A>C , CM000667.2:g.13691986A>C	GRCh38
NC_000005.9:g.13692095A>C , CM000667.1:g.13692095A>C	GRCh37
NC_000005.8:g.13745095A>C	NCBI36
NG_013081.1:g.257495T>G
NG_013081.2:g.257495T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1206T>G
ENST00000265104.5:c.13873T>G MANE Select	ENSP00000265104.4:p.Ter4625Glu
ENST00000681290.1:c.13828T>G	ENSP00000505288.1:p.Ter4610Glu
ENST00000265104.4:c.13873T>G	ENSP00000265104.4:p.Ter4625Glu
NM_001369.2:c.13873T>G	NP_001360.1:p.Ter4625Glu
XM_005248262.2:c.13828T>G	XP_005248319.1:p.Ter4610Glu
XM_005248262.3:c.13981T>G	XP_005248319.2:p.Ter4661Glu
XM_017009177.1:c.13561T>G	XP_016864666.1:p.Ter4521Glu
XM_017009178.1:c.12886T>G	XP_016864667.1:p.Ter4296Glu
XM_017009179.2:c.12886T>G	XP_016864668.1:p.Ter4296Glu
XM_017009185.1:c.9070T>G	XP_016864674.1:p.Ter3024Glu
XM_017009186.1:c.8623T>G	XP_016864675.1:p.Ter2875Glu
XM_017009188.1:c.7960T>G	XP_016864677.1:p.Ter2654Glu
XM_024454388.1:c.12886T>G	XP_024310156.1:p.Ter4296Glu
XM_024454389.1:c.12475T>G	XP_024310157.1:p.Ter4159Glu
NM_001369.3:c.13873T>G MANE Select	NP_001360.1:p.Ter4625Glu