Canonical Allele Identifier: CA3202043

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13751149T>C , CM000667.2:g.13751149T>C	GRCh38
NC_000005.9:g.13751258T>C , CM000667.1:g.13751258T>C	GRCh37
NC_000005.8:g.13804258T>C	NCBI36
NG_013081.1:g.198332A>G
NG_013081.2:g.198332A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11140A>G MANE Select	NP_001360.1:p.Ile3714Val
ENST00000265104.5:c.11140A>G MANE Select	ENSP00000265104.4:p.Ile3714Val
NM_001369.2:c.11140A>G	NP_001360.1:p.Ile3714Val
ENST00000265104.4:c.11140A>G	ENSP00000265104.4:p.Ile3714Val
ENST00000681290.1:c.11095A>G	ENSP00000505288.1:p.Ile3699Val
XM_005248262.2:c.11095A>G	XP_005248319.1:p.Ile3699Val
XM_005248262.3:c.11248A>G	XP_005248319.2:p.Ile3750Val
XM_017009177.1:c.11248A>G	XP_016864666.1:p.Ile3750Val
XM_017009178.1:c.10153A>G	XP_016864667.1:p.Ile3385Val
XM_017009179.2:c.10153A>G	XP_016864668.1:p.Ile3385Val
XM_017009180.1:c.11248A>G	XP_016864669.1:p.Ile3750Val
XM_017009181.1:c.11248A>G	XP_016864670.1:p.Ile3750Val
XM_017009182.1:c.11248A>G	XP_016864671.1:p.Ile3750Val
XM_017009185.1:c.6337A>G	XP_016864674.1:p.Ile2113Val
XM_017009186.1:c.5890A>G	XP_016864675.1:p.Ile1964Val
XM_017009188.1:c.5227A>G	XP_016864677.1:p.Ile1743Val
XM_024454388.1:c.10153A>G	XP_024310156.1:p.Ile3385Val
XM_024454389.1:c.9742A>G	XP_024310157.1:p.Ile3248Val