Canonical Allele Identifier: CA3202153

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2163061
• ClinVar RCV Id: RCV003070562
• dbSNP Id: rs772964691
• ExAC: 5:13753508 T / C
• gnomAD v2: 5-13753508-T-C
• gnomAD v4: 5-13753399-T-C
• MyVariant Identifiers: chr5:g.13753508T>C (hg19) ; chr5:g.13753399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753399T>C , CM000667.2:g.13753399T>C	GRCh38
NC_000005.9:g.13753508T>C , CM000667.1:g.13753508T>C	GRCh37
NC_000005.8:g.13806508T>C	NCBI36
NG_013081.1:g.196082A>G
NG_013081.2:g.196082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10706A>G MANE Select	ENSP00000265104.4:p.Asp3569Gly
ENST00000681290.1:c.10661A>G	ENSP00000505288.1:p.Asp3554Gly
ENST00000265104.4:c.10706A>G	ENSP00000265104.4:p.Asp3569Gly
NM_001369.2:c.10706A>G	NP_001360.1:p.Asp3569Gly
XM_005248262.2:c.10661A>G	XP_005248319.1:p.Asp3554Gly
XM_005248262.3:c.10814A>G	XP_005248319.2:p.Asp3605Gly
XM_017009177.1:c.10814A>G	XP_016864666.1:p.Asp3605Gly
XM_017009178.1:c.9719A>G	XP_016864667.1:p.Asp3240Gly
XM_017009179.2:c.9719A>G	XP_016864668.1:p.Asp3240Gly
XM_017009180.1:c.10814A>G	XP_016864669.1:p.Asp3605Gly
XM_017009181.1:c.10814A>G	XP_016864670.1:p.Asp3605Gly
XM_017009182.1:c.10814A>G	XP_016864671.1:p.Asp3605Gly
XM_017009185.1:c.5903A>G	XP_016864674.1:p.Asp1968Gly
XM_017009186.1:c.5456A>G	XP_016864675.1:p.Asp1819Gly
XM_017009188.1:c.4793A>G	XP_016864677.1:p.Asp1598Gly
XM_024454388.1:c.9719A>G	XP_024310156.1:p.Asp3240Gly
XM_024454389.1:c.9308A>G	XP_024310157.1:p.Asp3103Gly
NM_001369.3:c.10706A>G MANE Select	NP_001360.1:p.Asp3569Gly