Canonical Allele Identifier: CA113905432

Gene: DNAH5

Linked Data

• dbSNP Id: rs375610185
• gnomAD v3: 5-13691984-T-G
• gnomAD v4: 5-13691984-T-G
• MyVariant Identifiers: chr5:g.13692093T>G (hg19) ; chr5:g.13691984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691984T>G , CM000667.2:g.13691984T>G	GRCh38
NC_000005.9:g.13692093T>G , CM000667.1:g.13692093T>G	GRCh37
NC_000005.8:g.13745093T>G	NCBI36
NG_013081.1:g.257497A>C
NG_013081.2:g.257497A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1208A>C
ENST00000265104.5:c.13875A>C MANE Select	ENSP00000265104.4:p.Ter4625Tyr
ENST00000681290.1:c.13830A>C	ENSP00000505288.1:p.Ter4610Tyr
ENST00000265104.4:c.13875A>C	ENSP00000265104.4:p.Ter4625Tyr
NM_001369.2:c.13875A>C	NP_001360.1:p.Ter4625Tyr
XM_005248262.2:c.13830A>C	XP_005248319.1:p.Ter4610Tyr
XM_005248262.3:c.13983A>C	XP_005248319.2:p.Ter4661Tyr
XM_017009177.1:c.13563A>C	XP_016864666.1:p.Ter4521Tyr
XM_017009178.1:c.12888A>C	XP_016864667.1:p.Ter4296Tyr
XM_017009179.2:c.12888A>C	XP_016864668.1:p.Ter4296Tyr
XM_017009185.1:c.9072A>C	XP_016864674.1:p.Ter3024Tyr
XM_017009186.1:c.8625A>C	XP_016864675.1:p.Ter2875Tyr
XM_017009188.1:c.7962A>C	XP_016864677.1:p.Ter2654Tyr
XM_024454388.1:c.12888A>C	XP_024310156.1:p.Ter4296Tyr
XM_024454389.1:c.12477A>C	XP_024310157.1:p.Ter4159Tyr
NM_001369.3:c.13875A>C MANE Select	NP_001360.1:p.Ter4625Tyr