Canonical Allele Identifier: CA3201780

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 228607
• ClinVar RCV Id: RCV000214511 ; RCV000666941 ; RCV000541309
• dbSNP Id: rs143251480
• ExAC: 5:13727675 C / G
• gnomAD v2: 5-13727675-C-G
• gnomAD v3: 5-13727566-C-G
• gnomAD v4: 5-13727566-C-G
• MyVariant Identifiers: chr5:g.13727675C>G (hg19) ; chr5:g.13727566C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727566C>G , CM000667.2:g.13727566C>G	GRCh38
NC_000005.9:g.13727675C>G , CM000667.1:g.13727675C>G	GRCh37
NC_000005.8:g.13780675C>G	NCBI36
NG_013081.1:g.221915G>C
NG_013081.2:g.221915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11974G>C MANE Select	ENSP00000265104.4:p.Asp3992His
ENST00000681290.1:c.11929G>C	ENSP00000505288.1:p.Asp3977His
ENST00000265104.4:c.11974G>C	ENSP00000265104.4:p.Asp3992His
NM_001369.2:c.11974G>C	NP_001360.1:p.Asp3992His
XM_005248262.2:c.11929G>C	XP_005248319.1:p.Asp3977His
XM_005248262.3:c.12082G>C	XP_005248319.2:p.Asp4028His
XM_017009177.1:c.12082G>C	XP_016864666.1:p.Asp4028His
XM_017009178.1:c.10987G>C	XP_016864667.1:p.Asp3663His
XM_017009179.2:c.10987G>C	XP_016864668.1:p.Asp3663His
XM_017009180.1:c.12082G>C	XP_016864669.1:p.Asp4028His
XM_017009181.1:c.*77G>C	XP_016864670.1:n.*77G>C
XM_017009185.1:c.7171G>C	XP_016864674.1:p.Asp2391His
XM_017009186.1:c.6724G>C	XP_016864675.1:p.Asp2242His
XM_017009188.1:c.6061G>C	XP_016864677.1:p.Asp2021His
XM_024454388.1:c.10987G>C	XP_024310156.1:p.Asp3663His
XM_024454389.1:c.10576G>C	XP_024310157.1:p.Asp3526His
NM_001369.3:c.11974G>C MANE Select	NP_001360.1:p.Asp3992His