Canonical Allele Identifier: CA3201353

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 905605
• ClinVar RCV Id: RCV001154224
• dbSNP Id: rs756228394
• ExAC: 5:13701403 G / A
• gnomAD v2: 5-13701403-G-A
• gnomAD v4: 5-13701294-G-A
• MyVariant Identifiers: chr5:g.13701403G>A (hg19) ; chr5:g.13701294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701294G>A , CM000667.2:g.13701294G>A	GRCh38
NC_000005.9:g.13701403G>A , CM000667.1:g.13701403G>A	GRCh37
NC_000005.8:g.13754403G>A	NCBI36
NG_013081.1:g.248187C>T
NG_013081.2:g.248187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.814C>T
ENST00000265104.5:c.13481C>T MANE Select	ENSP00000265104.4:p.Ala4494Val
ENST00000681290.1:c.13436C>T	ENSP00000505288.1:p.Ala4479Val
ENST00000265104.4:c.13481C>T	ENSP00000265104.4:p.Ala4494Val
NM_001369.2:c.13481C>T	NP_001360.1:p.Ala4494Val
XM_005248262.2:c.13436C>T	XP_005248319.1:p.Ala4479Val
XM_005248262.3:c.13589C>T	XP_005248319.2:p.Ala4530Val
XM_017009177.1:c.13169C>T	XP_016864666.1:p.Ala4390Val
XM_017009178.1:c.12494C>T	XP_016864667.1:p.Ala4165Val
XM_017009179.2:c.12494C>T	XP_016864668.1:p.Ala4165Val
XM_017009185.1:c.8678C>T	XP_016864674.1:p.Ala2893Val
XM_017009186.1:c.8231C>T	XP_016864675.1:p.Ala2744Val
XM_017009188.1:c.7568C>T	XP_016864677.1:p.Ala2523Val
XM_024454388.1:c.12494C>T	XP_024310156.1:p.Ala4165Val
XM_024454389.1:c.12083C>T	XP_024310157.1:p.Ala4028Val
NM_001369.3:c.13481C>T MANE Select	NP_001360.1:p.Ala4494Val