Canonical Allele Identifier: CA3201513

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13716516T>C , CM000667.2:g.13716516T>C	GRCh38
NC_000005.9:g.13716625T>C , CM000667.1:g.13716625T>C	GRCh37
NC_000005.8:g.13769625T>C	NCBI36
NG_013081.1:g.232965A>G
NG_013081.2:g.232965A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12880A>G MANE Select	NP_001360.1:p.Thr4294Ala
ENST00000265104.5:c.12880A>G MANE Select	ENSP00000265104.4:p.Thr4294Ala
NM_001369.2:c.12880A>G	NP_001360.1:p.Thr4294Ala
ENST00000265104.4:c.12880A>G	ENSP00000265104.4:p.Thr4294Ala
ENST00000681290.1:c.12835A>G	ENSP00000505288.1:p.Thr4279Ala
XM_005248262.2:c.12835A>G	XP_005248319.1:p.Thr4279Ala
XM_005248262.3:c.12988A>G	XP_005248319.2:p.Thr4330Ala
XM_017009177.1:c.12813+799A>G	XP_016864666.1:n.12813+799A>G
XM_017009178.1:c.11893A>G	XP_016864667.1:p.Thr3965Ala
XM_017009179.2:c.11893A>G	XP_016864668.1:p.Thr3965Ala
XM_017009185.1:c.8077A>G	XP_016864674.1:p.Thr2693Ala
XM_017009186.1:c.7630A>G	XP_016864675.1:p.Thr2544Ala
XM_017009188.1:c.6967A>G	XP_016864677.1:p.Thr2323Ala
XM_024454388.1:c.11893A>G	XP_024310156.1:p.Thr3965Ala
XM_024454389.1:c.11482A>G	XP_024310157.1:p.Thr3828Ala