Canonical Allele Identifier: CA3203893

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 226598
• ClinVar RCV Id: RCV000221152 ; RCV001152428 ; RCV002054371
• dbSNP Id: rs146696580
• ExAC: 5:13862646 G / T
• gnomAD v2: 5-13862646-G-T
• gnomAD v3: 5-13862537-G-T
• gnomAD v4: 5-13862537-G-T
• MyVariant Identifiers: chr5:g.13862646G>T (hg19) ; chr5:g.13862537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13862537G>T , CM000667.2:g.13862537G>T	GRCh38
NC_000005.9:g.13862646G>T , CM000667.1:g.13862646G>T	GRCh37
NC_000005.8:g.13915646G>T	NCBI36
NG_013081.1:g.86944C>A
NG_013081.2:g.86944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.4796+11C>A MANE Select	ENSP00000265104.4:n.4796+11C>A
ENST00000681290.1:c.4751+11C>A	ENSP00000505288.1:n.4751+11C>A
ENST00000265104.4:c.4796+11C>A	ENSP00000265104.4:n.4796+11C>A
NM_001369.2:c.4796+11C>A	NP_001360.1:n.4796+11C>A
XM_005248262.2:c.4751+11C>A	XP_005248319.1:n.4751+11C>A
XM_011513990.1:c.4796+11C>A	XP_011512292.1:n.4796+11C>A
XR_925598.1:n.5003+11C>A
XM_005248262.3:c.4904+11C>A	XP_005248319.2:n.4904+11C>A
XM_017009177.1:c.4904+11C>A	XP_016864666.1:n.4904+11C>A
XM_017009178.1:c.3809+11C>A	XP_016864667.1:n.3809+11C>A
XM_017009179.2:c.3809+11C>A	XP_016864668.1:n.3809+11C>A
XM_017009180.1:c.4904+11C>A	XP_016864669.1:n.4904+11C>A
XM_017009181.1:c.4904+11C>A	XP_016864670.1:n.4904+11C>A
XM_017009182.1:c.4904+11C>A	XP_016864671.1:n.4904+11C>A
XM_017009183.1:c.4904+11C>A	XP_016864672.1:n.4904+11C>A
XM_017009184.1:c.4904+11C>A	XP_016864673.1:n.4904+11C>A
XM_017009187.1:c.4904+11C>A	XP_016864676.1:n.4904+11C>A
XM_024454388.1:c.3809+11C>A	XP_024310156.1:n.3809+11C>A
XM_024454389.1:c.3398+11C>A	XP_024310157.1:n.3398+11C>A
XR_001742034.1:n.4921+11C>A
XR_001742035.1:n.4921+11C>A
NM_001369.3:c.4796+11C>A MANE Select	NP_001360.1:n.4796+11C>A