Canonical Allele Identifier: CA359188529

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2039559
• ClinVar RCV Id: RCV002899985
• gnomAD v4: 5-13692010-C-A
• MyVariant Identifiers: chr5:g.13692119C>A (hg19) ; chr5:g.13692010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692010C>A , CM000667.2:g.13692010C>A	GRCh38
NC_000005.9:g.13692119C>A , CM000667.1:g.13692119C>A	GRCh37
NC_000005.8:g.13745119C>A	NCBI36
NG_013081.1:g.257471G>T
NG_013081.2:g.257471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1182G>T
ENST00000265104.5:c.13849G>T MANE Select	ENSP00000265104.4:p.Val4617Phe
ENST00000681290.1:c.13804G>T	ENSP00000505288.1:p.Val4602Phe
ENST00000265104.4:c.13849G>T	ENSP00000265104.4:p.Val4617Phe
NM_001369.2:c.13849G>T	NP_001360.1:p.Val4617Phe
XM_005248262.2:c.13804G>T	XP_005248319.1:p.Val4602Phe
XM_005248262.3:c.13957G>T	XP_005248319.2:p.Val4653Phe
XM_017009177.1:c.13537G>T	XP_016864666.1:p.Val4513Phe
XM_017009178.1:c.12862G>T	XP_016864667.1:p.Val4288Phe
XM_017009179.2:c.12862G>T	XP_016864668.1:p.Val4288Phe
XM_017009185.1:c.9046G>T	XP_016864674.1:p.Val3016Phe
XM_017009186.1:c.8599G>T	XP_016864675.1:p.Val2867Phe
XM_017009188.1:c.7936G>T	XP_016864677.1:p.Val2646Phe
XM_024454388.1:c.12862G>T	XP_024310156.1:p.Val4288Phe
XM_024454389.1:c.12451G>T	XP_024310157.1:p.Val4151Phe
NM_001369.3:c.13849G>T MANE Select	NP_001360.1:p.Val4617Phe