Canonical Allele Identifier: CA3205019

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 414355
• ClinVar RCV Id: RCV000473809 ; RCV001154347
• dbSNP Id: rs151000177
• ExAC: 5:13919279 G / A
• gnomAD v2: 5-13919279-G-A
• gnomAD v3: 5-13919170-G-A
• gnomAD v4: 5-13919170-G-A
• MyVariant Identifiers: chr5:g.13919279G>A (hg19) ; chr5:g.13919170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919170G>A , CM000667.2:g.13919170G>A	GRCh38
NC_000005.9:g.13919279G>A , CM000667.1:g.13919279G>A	GRCh37
NC_000005.8:g.13972279G>A	NCBI36
NG_013081.1:g.30311C>T
NG_013081.2:g.30311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1031+6C>T
ENST00000682376.1:n.1025C>T
ENST00000682586.1:n.1074C>T
ENST00000683011.1:n.914+6C>T
ENST00000683967.1:n.1074+6C>T
ENST00000684013.1:n.1074+6C>T
ENST00000684099.1:n.1070+6C>T
ENST00000265104.5:c.975+6C>T MANE Select	ENSP00000265104.4:n.975+6C>T
ENST00000680213.1:c.735+6C>T	ENSP00000506622.1:n.735+6C>T
ENST00000681290.1:c.930+6C>T	ENSP00000505288.1:n.930+6C>T
ENST00000265104.4:c.975+6C>T	ENSP00000265104.4:n.975+6C>T
ENST00000508040.1:n.1383+6C>T
NM_001369.2:c.975+6C>T	NP_001360.1:n.975+6C>T
XM_005248262.2:c.930+6C>T	XP_005248319.1:n.930+6C>T
XM_011513990.1:c.975+6C>T	XP_011512292.1:n.975+6C>T
XR_925598.1:n.1182+6C>T
XM_005248262.3:c.1083+6C>T	XP_005248319.2:n.1083+6C>T
XM_017009177.1:c.1083+6C>T	XP_016864666.1:n.1083+6C>T
XM_017009178.1:c.-13+6C>T	XP_016864667.1:n.-13+6C>T
XM_017009180.1:c.1083+6C>T	XP_016864669.1:n.1083+6C>T
XM_017009181.1:c.1083+6C>T	XP_016864670.1:n.1083+6C>T
XM_017009182.1:c.1083+6C>T	XP_016864671.1:n.1083+6C>T
XM_017009183.1:c.1083+6C>T	XP_016864672.1:n.1083+6C>T
XM_017009184.1:c.1083+6C>T	XP_016864673.1:n.1083+6C>T
XM_017009187.1:c.1083+6C>T	XP_016864676.1:n.1083+6C>T
XM_024454388.1:c.-1926C>T	XP_024310156.1:n.-1926C>T
XM_024454389.1:c.-985+6C>T	XP_024310157.1:n.-985+6C>T
XR_001742034.1:n.1100+6C>T
XR_001742035.1:n.1100+6C>T
NM_001369.3:c.975+6C>T MANE Select	NP_001360.1:n.975+6C>T