Canonical Allele Identifier: CA359213087

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2731844
• ClinVar RCV Id: RCV003539266
• dbSNP Id: rs1245106080
• gnomAD v2: 5-13721126-G-T
• gnomAD v3: 5-13721017-G-T
• gnomAD v4: 5-13721017-G-T
• MyVariant Identifiers: chr5:g.13721126G>T (hg19) ; chr5:g.13721017G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721017G>T , CM000667.2:g.13721017G>T	GRCh38
NC_000005.9:g.13721126G>T , CM000667.1:g.13721126G>T	GRCh37
NC_000005.8:g.13774126G>T	NCBI36
NG_013081.1:g.228464C>A
NG_013081.2:g.228464C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12262C>A MANE Select	ENSP00000265104.4:p.Gln4088Lys
ENST00000681290.1:c.12217C>A	ENSP00000505288.1:p.Gln4073Lys
ENST00000265104.4:c.12262C>A	ENSP00000265104.4:p.Gln4088Lys
NM_001369.2:c.12262C>A	NP_001360.1:p.Gln4088Lys
XM_005248262.2:c.12217C>A	XP_005248319.1:p.Gln4073Lys
XM_005248262.3:c.12370C>A	XP_005248319.2:p.Gln4124Lys
XM_017009177.1:c.12370C>A	XP_016864666.1:p.Gln4124Lys
XM_017009178.1:c.11275C>A	XP_016864667.1:p.Gln3759Lys
XM_017009179.2:c.11275C>A	XP_016864668.1:p.Gln3759Lys
XM_017009180.1:c.12370C>A	XP_016864669.1:p.Gln4124Lys
XM_017009185.1:c.7459C>A	XP_016864674.1:p.Gln2487Lys
XM_017009186.1:c.7012C>A	XP_016864675.1:p.Gln2338Lys
XM_017009188.1:c.6349C>A	XP_016864677.1:p.Gln2117Lys
XM_024454388.1:c.11275C>A	XP_024310156.1:p.Gln3759Lys
XM_024454389.1:c.10864C>A	XP_024310157.1:p.Gln3622Lys
NM_001369.3:c.12262C>A MANE Select	NP_001360.1:p.Gln4088Lys