Canonical Allele Identifier: CA3202537

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1767100
• ClinVar RCV Id: RCV002374069
• dbSNP Id: rs773045896
• ExAC: 5:13770982 C / A
• gnomAD v2: 5-13770982-C-A
• gnomAD v3: 5-13770873-C-A
• gnomAD v4: 5-13770873-C-A
• MyVariant Identifiers: chr5:g.13770982C>A (hg19) ; chr5:g.13770873C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770873C>A , CM000667.2:g.13770873C>A	GRCh38
NC_000005.9:g.13770982C>A , CM000667.1:g.13770982C>A	GRCh37
NC_000005.8:g.13823982C>A	NCBI36
NG_013081.1:g.178608G>T
NG_013081.2:g.178608G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9481G>T MANE Select	ENSP00000265104.4:p.Val3161Phe
ENST00000681290.1:c.9436G>T	ENSP00000505288.1:p.Val3146Phe
ENST00000265104.4:c.9481G>T	ENSP00000265104.4:p.Val3161Phe
ENST00000504001.3:n.193G>T
NM_001369.2:c.9481G>T	NP_001360.1:p.Val3161Phe
XM_005248262.2:c.9436G>T	XP_005248319.1:p.Val3146Phe
XM_005248262.3:c.9589G>T	XP_005248319.2:p.Val3197Phe
XM_017009177.1:c.9589G>T	XP_016864666.1:p.Val3197Phe
XM_017009178.1:c.8494G>T	XP_016864667.1:p.Val2832Phe
XM_017009179.2:c.8494G>T	XP_016864668.1:p.Val2832Phe
XM_017009180.1:c.9589G>T	XP_016864669.1:p.Val3197Phe
XM_017009181.1:c.9589G>T	XP_016864670.1:p.Val3197Phe
XM_017009182.1:c.9589G>T	XP_016864671.1:p.Val3197Phe
XM_017009183.1:c.9589G>T	XP_016864672.1:p.Val3197Phe
XM_017009185.1:c.4678G>T	XP_016864674.1:p.Val1560Phe
XM_017009186.1:c.4231G>T	XP_016864675.1:p.Val1411Phe
XM_017009188.1:c.3568G>T	XP_016864677.1:p.Val1190Phe
XM_024454388.1:c.8494G>T	XP_024310156.1:p.Val2832Phe
XM_024454389.1:c.8083G>T	XP_024310157.1:p.Val2695Phe
NM_001369.3:c.9481G>T MANE Select	NP_001360.1:p.Val3161Phe