Canonical Allele Identifier: CA359196686

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 856680
• ClinVar RCV Id: RCV001062192
• dbSNP Id: rs1743041017
• gnomAD v4: 5-13708176-G-A
• COSMIC: COSM3138876
• MyVariant Identifiers: chr5:g.13708285G>A (hg19) ; chr5:g.13708176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708176G>A , CM000667.2:g.13708176G>A	GRCh38
NC_000005.9:g.13708285G>A , CM000667.1:g.13708285G>A	GRCh37
NC_000005.8:g.13761285G>A	NCBI36
NG_013081.1:g.241305C>T
NG_013081.2:g.241305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.618C>T
ENST00000265104.5:c.13285C>T MANE Select	ENSP00000265104.4:p.Arg4429Ter
ENST00000681290.1:c.13240C>T	ENSP00000505288.1:p.Arg4414Ter
ENST00000265104.4:c.13285C>T	ENSP00000265104.4:p.Arg4429Ter
NM_001369.2:c.13285C>T	NP_001360.1:p.Arg4429Ter
XM_005248262.2:c.13240C>T	XP_005248319.1:p.Arg4414Ter
XM_005248262.3:c.13393C>T	XP_005248319.2:p.Arg4465Ter
XM_017009177.1:c.12973C>T	XP_016864666.1:p.Arg4325Ter
XM_017009178.1:c.12298C>T	XP_016864667.1:p.Arg4100Ter
XM_017009179.2:c.12298C>T	XP_016864668.1:p.Arg4100Ter
XM_017009185.1:c.8482C>T	XP_016864674.1:p.Arg2828Ter
XM_017009186.1:c.8035C>T	XP_016864675.1:p.Arg2679Ter
XM_017009188.1:c.7372C>T	XP_016864677.1:p.Arg2458Ter
XM_024454388.1:c.12298C>T	XP_024310156.1:p.Arg4100Ter
XM_024454389.1:c.11887C>T	XP_024310157.1:p.Arg3963Ter
NM_001369.3:c.13285C>T MANE Select	NP_001360.1:p.Arg4429Ter