Canonical Allele Identifier: CA3203489

Gene: DNAH5

Linked Data

• dbSNP Id: rs758603083
• ExAC: 5:13830655 T / A
• gnomAD v2: 5-13830655-T-A
• MyVariant Identifiers: chr5:g.13830655T>A (hg19) ; chr5:g.13830546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830546T>A , CM000667.2:g.13830546T>A	GRCh38
NC_000005.9:g.13830655T>A , CM000667.1:g.13830655T>A	GRCh37
NC_000005.8:g.13883655T>A	NCBI36
NG_013081.1:g.118935A>T
NG_013081.2:g.118935A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.992+51A>T
ENST00000265104.5:c.6061+51A>T MANE Select	ENSP00000265104.4:n.6061+51A>T
ENST00000681290.1:c.6016+51A>T	ENSP00000505288.1:n.6016+51A>T
ENST00000265104.4:c.6061+51A>T	ENSP00000265104.4:n.6061+51A>T
NM_001369.2:c.6061+51A>T	NP_001360.1:n.6061+51A>T
XM_005248262.2:c.6016+51A>T	XP_005248319.1:n.6016+51A>T
XM_011513990.1:c.6061+51A>T	XP_011512292.1:n.6061+51A>T
XR_925598.1:n.6268+51A>T
XM_005248262.3:c.6169+51A>T	XP_005248319.2:n.6169+51A>T
XM_017009177.1:c.6169+51A>T	XP_016864666.1:n.6169+51A>T
XM_017009178.1:c.5074+51A>T	XP_016864667.1:n.5074+51A>T
XM_017009179.2:c.5074+51A>T	XP_016864668.1:n.5074+51A>T
XM_017009180.1:c.6169+51A>T	XP_016864669.1:n.6169+51A>T
XM_017009181.1:c.6169+51A>T	XP_016864670.1:n.6169+51A>T
XM_017009182.1:c.6169+51A>T	XP_016864671.1:n.6169+51A>T
XM_017009183.1:c.6169+51A>T	XP_016864672.1:n.6169+51A>T
XM_017009184.1:c.6169+51A>T	XP_016864673.1:n.6169+51A>T
XM_017009185.1:c.1258+51A>T	XP_016864674.1:n.1258+51A>T
XM_017009186.1:c.811+51A>T	XP_016864675.1:n.811+51A>T
XM_017009187.1:c.6169+51A>T	XP_016864676.1:n.6169+51A>T
XM_017009188.1:c.148+51A>T	XP_016864677.1:n.148+51A>T
XM_024454388.1:c.5074+51A>T	XP_024310156.1:n.5074+51A>T
XM_024454389.1:c.4663+51A>T	XP_024310157.1:n.4663+51A>T
XR_001742034.1:n.6186+51A>T
XR_001742035.1:n.6186+51A>T
NM_001369.3:c.6061+51A>T MANE Select	NP_001360.1:n.6061+51A>T