Canonical Allele Identifier: CA359208212

Gene: DNAH5

Linked Data

• dbSNP Id: rs1754105896
• gnomAD v4: 5-13776496-T-C
• MyVariant Identifiers: chr5:g.13776605T>C (hg19) ; chr5:g.13776496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776496T>C , CM000667.2:g.13776496T>C	GRCh38
NC_000005.9:g.13776605T>C , CM000667.1:g.13776605T>C	GRCh37
NC_000005.8:g.13829605T>C	NCBI36
NG_013081.1:g.172985A>G
NG_013081.2:g.172985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9316A>G MANE Select	ENSP00000265104.4:p.Ile3106Val
ENST00000681290.1:c.9271A>G	ENSP00000505288.1:p.Ile3091Val
ENST00000265104.4:c.9316A>G	ENSP00000265104.4:p.Ile3106Val
NM_001369.2:c.9316A>G	NP_001360.1:p.Ile3106Val
XM_005248262.2:c.9271A>G	XP_005248319.1:p.Ile3091Val
XM_005248262.3:c.9424A>G	XP_005248319.2:p.Ile3142Val
XM_017009177.1:c.9424A>G	XP_016864666.1:p.Ile3142Val
XM_017009178.1:c.8329A>G	XP_016864667.1:p.Ile2777Val
XM_017009179.2:c.8329A>G	XP_016864668.1:p.Ile2777Val
XM_017009180.1:c.9424A>G	XP_016864669.1:p.Ile3142Val
XM_017009181.1:c.9424A>G	XP_016864670.1:p.Ile3142Val
XM_017009182.1:c.9424A>G	XP_016864671.1:p.Ile3142Val
XM_017009183.1:c.9424A>G	XP_016864672.1:p.Ile3142Val
XM_017009185.1:c.4513A>G	XP_016864674.1:p.Ile1505Val
XM_017009186.1:c.4066A>G	XP_016864675.1:p.Ile1356Val
XM_017009188.1:c.3403A>G	XP_016864677.1:p.Ile1135Val
XM_024454388.1:c.8329A>G	XP_024310156.1:p.Ile2777Val
XM_024454389.1:c.7918A>G	XP_024310157.1:p.Ile2640Val
NM_001369.3:c.9316A>G MANE Select	NP_001360.1:p.Ile3106Val