Canonical Allele Identifier: CA359188624

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2982071
• ClinVar RCV Id: RCV003842717
• dbSNP Id: rs771108785
• gnomAD v2: 5-13692164-C-A
• gnomAD v4: 5-13692055-C-A
• MyVariant Identifiers: chr5:g.13692164C>A (hg19) ; chr5:g.13692055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692055C>A , CM000667.2:g.13692055C>A	GRCh38
NC_000005.9:g.13692164C>A , CM000667.1:g.13692164C>A	GRCh37
NC_000005.8:g.13745164C>A	NCBI36
NG_013081.1:g.257426G>T
NG_013081.2:g.257426G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1137G>T
ENST00000265104.5:c.13804G>T MANE Select	ENSP00000265104.4:p.Asp4602Tyr
ENST00000681290.1:c.13759G>T	ENSP00000505288.1:p.Asp4587Tyr
ENST00000265104.4:c.13804G>T	ENSP00000265104.4:p.Asp4602Tyr
NM_001369.2:c.13804G>T	NP_001360.1:p.Asp4602Tyr
XM_005248262.2:c.13759G>T	XP_005248319.1:p.Asp4587Tyr
XM_005248262.3:c.13912G>T	XP_005248319.2:p.Asp4638Tyr
XM_017009177.1:c.13492G>T	XP_016864666.1:p.Asp4498Tyr
XM_017009178.1:c.12817G>T	XP_016864667.1:p.Asp4273Tyr
XM_017009179.2:c.12817G>T	XP_016864668.1:p.Asp4273Tyr
XM_017009185.1:c.9001G>T	XP_016864674.1:p.Asp3001Tyr
XM_017009186.1:c.8554G>T	XP_016864675.1:p.Asp2852Tyr
XM_017009188.1:c.7891G>T	XP_016864677.1:p.Asp2631Tyr
XM_024454388.1:c.12817G>T	XP_024310156.1:p.Asp4273Tyr
XM_024454389.1:c.12406G>T	XP_024310157.1:p.Asp4136Tyr
NM_001369.3:c.13804G>T MANE Select	NP_001360.1:p.Asp4602Tyr