Canonical Allele Identifier: CA3201420

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2198512
• ClinVar RCV Id: RCV002629443
• dbSNP Id: rs150046963
• ExAC: 5:13708348 G / C
• gnomAD v2: 5-13708348-G-C
• gnomAD v3: 5-13708239-G-C
• gnomAD v4: 5-13708239-G-C
• MyVariant Identifiers: chr5:g.13708348G>C (hg19) ; chr5:g.13708239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708239G>C , CM000667.2:g.13708239G>C	GRCh38
NC_000005.9:g.13708348G>C , CM000667.1:g.13708348G>C	GRCh37
NC_000005.8:g.13761348G>C	NCBI36
NG_013081.1:g.241242C>G
NG_013081.2:g.241242C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.555C>G
ENST00000265104.5:c.13222C>G MANE Select	ENSP00000265104.4:p.Arg4408Gly
ENST00000681290.1:c.13177C>G	ENSP00000505288.1:p.Arg4393Gly
ENST00000265104.4:c.13222C>G	ENSP00000265104.4:p.Arg4408Gly
NM_001369.2:c.13222C>G	NP_001360.1:p.Arg4408Gly
XM_005248262.2:c.13177C>G	XP_005248319.1:p.Arg4393Gly
XM_005248262.3:c.13330C>G	XP_005248319.2:p.Arg4444Gly
XM_017009177.1:c.12910C>G	XP_016864666.1:p.Arg4304Gly
XM_017009178.1:c.12235C>G	XP_016864667.1:p.Arg4079Gly
XM_017009179.2:c.12235C>G	XP_016864668.1:p.Arg4079Gly
XM_017009185.1:c.8419C>G	XP_016864674.1:p.Arg2807Gly
XM_017009186.1:c.7972C>G	XP_016864675.1:p.Arg2658Gly
XM_017009188.1:c.7309C>G	XP_016864677.1:p.Arg2437Gly
XM_024454388.1:c.12235C>G	XP_024310156.1:p.Arg4079Gly
XM_024454389.1:c.11824C>G	XP_024310157.1:p.Arg3942Gly
NM_001369.3:c.13222C>G MANE Select	NP_001360.1:p.Arg4408Gly