Canonical Allele Identifier: CA359188480

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13691986-A-G
• MyVariant Identifiers: chr5:g.13692095A>G (hg19) ; chr5:g.13691986A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1206T>C
ENST00000265104.5:c.13873T>C MANE Select	ENSP00000265104.4:p.Ter4625Gln
ENST00000681290.1:c.13828T>C	ENSP00000505288.1:p.Ter4610Gln
ENST00000265104.4:c.13873T>C	ENSP00000265104.4:p.Ter4625Gln
NM_001369.2:c.13873T>C	NP_001360.1:p.Ter4625Gln
XM_005248262.2:c.13828T>C	XP_005248319.1:p.Ter4610Gln
XM_005248262.3:c.13981T>C	XP_005248319.2:p.Ter4661Gln
XM_017009177.1:c.13561T>C	XP_016864666.1:p.Ter4521Gln
XM_017009178.1:c.12886T>C	XP_016864667.1:p.Ter4296Gln
XM_017009179.2:c.12886T>C	XP_016864668.1:p.Ter4296Gln
XM_017009185.1:c.9070T>C	XP_016864674.1:p.Ter3024Gln
XM_017009186.1:c.8623T>C	XP_016864675.1:p.Ter2875Gln
XM_017009188.1:c.7960T>C	XP_016864677.1:p.Ter2654Gln
XM_024454388.1:c.12886T>C	XP_024310156.1:p.Ter4296Gln
XM_024454389.1:c.12475T>C	XP_024310157.1:p.Ter4159Gln
NM_001369.3:c.13873T>C MANE Select	NP_001360.1:p.Ter4625Gln