Canonical Allele Identifier: CA3205253

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 414367
• ClinVar RCV Id: RCV000474434 ; RCV003970318
• dbSNP Id: rs762313659
• ExAC: 5:13928293 A / C
• gnomAD v2: 5-13928293-A-C
• gnomAD v3: 5-13928184-A-C
• gnomAD v4: 5-13928184-A-C
• MyVariant Identifiers: chr5:g.13928293A>C (hg19) ; chr5:g.13928184A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13928184A>C , CM000667.2:g.13928184A>C	GRCh38
NC_000005.9:g.13928293A>C , CM000667.1:g.13928293A>C	GRCh37
NC_000005.8:g.13981293A>C	NCBI36
NG_013081.1:g.21297T>G
NG_013081.2:g.21297T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.249-6T>G
ENST00000682376.1:n.237-6T>G
ENST00000682586.1:n.237-6T>G
ENST00000683011.1:n.227-6T>G
ENST00000683967.1:n.243-6T>G
ENST00000684013.1:n.243-6T>G
ENST00000684099.1:n.288-6T>G
ENST00000265104.5:c.193-6T>G MANE Select	ENSP00000265104.4:n.193-6T>G
ENST00000680213.1:c.-48-6T>G	ENSP00000506622.1:n.-48-6T>G
ENST00000681290.1:c.148-6T>G	ENSP00000505288.1:n.148-6T>G
ENST00000265104.4:c.193-6T>G	ENSP00000265104.4:n.193-6T>G
ENST00000508040.1:n.552-6T>G
NM_001369.2:c.193-6T>G	NP_001360.1:n.193-6T>G
XM_005248262.2:c.148-6T>G	XP_005248319.1:n.148-6T>G
XM_011513990.1:c.193-6T>G	XP_011512292.1:n.193-6T>G
XR_925598.1:n.400-6T>G
XM_005248262.3:c.301-6T>G	XP_005248319.2:n.301-6T>G
XM_017009177.1:c.301-6T>G	XP_016864666.1:n.301-6T>G
XM_017009178.1:c.-844-6T>G	XP_016864667.1:n.-844-6T>G
XM_017009180.1:c.301-6T>G	XP_016864669.1:n.301-6T>G
XM_017009181.1:c.301-6T>G	XP_016864670.1:n.301-6T>G
XM_017009182.1:c.301-6T>G	XP_016864671.1:n.301-6T>G
XM_017009183.1:c.301-6T>G	XP_016864672.1:n.301-6T>G
XM_017009184.1:c.301-6T>G	XP_016864673.1:n.301-6T>G
XM_017009187.1:c.301-6T>G	XP_016864676.1:n.301-6T>G
XM_024454388.1:c.-2714-6T>G	XP_024310156.1:n.-2714-6T>G
XM_024454389.1:c.-1767-6T>G	XP_024310157.1:n.-1767-6T>G
XR_001742034.1:n.318-6T>G
XR_001742035.1:n.318-6T>G
NM_001369.3:c.193-6T>G MANE Select	NP_001360.1:n.193-6T>G