Canonical Allele Identifier: CA359207414

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2000825
• ClinVar RCV Id: RCV002810668
• MyVariant Identifiers: chr5:g.13717528A>G (hg19) ; chr5:g.13717419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717419A>G , CM000667.2:g.13717419A>G	GRCh38
NC_000005.9:g.13717528A>G , CM000667.1:g.13717528A>G	GRCh37
NC_000005.8:g.13770528A>G	NCBI36
NG_013081.1:g.232062T>C
NG_013081.2:g.232062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12601T>C MANE Select	ENSP00000265104.4:p.Phe4201Leu
ENST00000681290.1:c.12556T>C	ENSP00000505288.1:p.Phe4186Leu
ENST00000265104.4:c.12601T>C	ENSP00000265104.4:p.Phe4201Leu
NM_001369.2:c.12601T>C	NP_001360.1:p.Phe4201Leu
XM_005248262.2:c.12556T>C	XP_005248319.1:p.Phe4186Leu
XM_005248262.3:c.12709T>C	XP_005248319.2:p.Phe4237Leu
XM_017009177.1:c.12709T>C	XP_016864666.1:p.Phe4237Leu
XM_017009178.1:c.11614T>C	XP_016864667.1:p.Phe3872Leu
XM_017009179.2:c.11614T>C	XP_016864668.1:p.Phe3872Leu
XM_017009180.1:c.12709T>C	XP_016864669.1:p.Phe4237Leu
XM_017009185.1:c.7798T>C	XP_016864674.1:p.Phe2600Leu
XM_017009186.1:c.7351T>C	XP_016864675.1:p.Phe2451Leu
XM_017009188.1:c.6688T>C	XP_016864677.1:p.Phe2230Leu
XM_024454388.1:c.11614T>C	XP_024310156.1:p.Phe3872Leu
XM_024454389.1:c.11203T>C	XP_024310157.1:p.Phe3735Leu
NM_001369.3:c.12601T>C MANE Select	NP_001360.1:p.Phe4201Leu