Canonical Allele Identifier: CA3202383

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13766170G>T , CM000667.2:g.13766170G>T	GRCh38
NC_000005.9:g.13766279G>T , CM000667.1:g.13766279G>T	GRCh37
NC_000005.8:g.13819279G>T	NCBI36
NG_013081.1:g.183311C>A
NG_013081.2:g.183311C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9907C>A MANE Select	NP_001360.1:p.Pro3303Thr
ENST00000265104.5:c.9907C>A MANE Select	ENSP00000265104.4:p.Pro3303Thr
NM_001369.2:c.9907C>A	NP_001360.1:p.Pro3303Thr
ENST00000265104.4:c.9907C>A	ENSP00000265104.4:p.Pro3303Thr
ENST00000504001.3:n.609+2790C>A
ENST00000681290.1:c.9862C>A	ENSP00000505288.1:p.Pro3288Thr
XM_005248262.2:c.9862C>A	XP_005248319.1:p.Pro3288Thr
XM_005248262.3:c.10015C>A	XP_005248319.2:p.Pro3339Thr
XM_017009177.1:c.10015C>A	XP_016864666.1:p.Pro3339Thr
XM_017009178.1:c.8920C>A	XP_016864667.1:p.Pro2974Thr
XM_017009179.2:c.8920C>A	XP_016864668.1:p.Pro2974Thr
XM_017009180.1:c.10015C>A	XP_016864669.1:p.Pro3339Thr
XM_017009181.1:c.10015C>A	XP_016864670.1:p.Pro3339Thr
XM_017009182.1:c.10015C>A	XP_016864671.1:p.Pro3339Thr
XM_017009185.1:c.5104C>A	XP_016864674.1:p.Pro1702Thr
XM_017009186.1:c.4657C>A	XP_016864675.1:p.Pro1553Thr
XM_017009188.1:c.3994C>A	XP_016864677.1:p.Pro1332Thr
XM_024454388.1:c.8920C>A	XP_024310156.1:p.Pro2974Thr
XM_024454389.1:c.8509C>A	XP_024310157.1:p.Pro2837Thr