Canonical Allele Identifier: CA359213164

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2238336
• ClinVar RCV Id: RCV004098839
• MyVariant Identifiers: chr5:g.13721137C>A (hg19) ; chr5:g.13721028C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721028C>A , CM000667.2:g.13721028C>A	GRCh38
NC_000005.9:g.13721137C>A , CM000667.1:g.13721137C>A	GRCh37
NC_000005.8:g.13774137C>A	NCBI36
NG_013081.1:g.228453G>T
NG_013081.2:g.228453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12251G>T MANE Select	ENSP00000265104.4:p.Arg4084Leu
ENST00000681290.1:c.12206G>T	ENSP00000505288.1:p.Arg4069Leu
ENST00000265104.4:c.12251G>T	ENSP00000265104.4:p.Arg4084Leu
NM_001369.2:c.12251G>T	NP_001360.1:p.Arg4084Leu
XM_005248262.2:c.12206G>T	XP_005248319.1:p.Arg4069Leu
XM_005248262.3:c.12359G>T	XP_005248319.2:p.Arg4120Leu
XM_017009177.1:c.12359G>T	XP_016864666.1:p.Arg4120Leu
XM_017009178.1:c.11264G>T	XP_016864667.1:p.Arg3755Leu
XM_017009179.2:c.11264G>T	XP_016864668.1:p.Arg3755Leu
XM_017009180.1:c.12359G>T	XP_016864669.1:p.Arg4120Leu
XM_017009185.1:c.7448G>T	XP_016864674.1:p.Arg2483Leu
XM_017009186.1:c.7001G>T	XP_016864675.1:p.Arg2334Leu
XM_017009188.1:c.6338G>T	XP_016864677.1:p.Arg2113Leu
XM_024454388.1:c.11264G>T	XP_024310156.1:p.Arg3755Leu
XM_024454389.1:c.10853G>T	XP_024310157.1:p.Arg3618Leu
NM_001369.3:c.12251G>T MANE Select	NP_001360.1:p.Arg4084Leu