Canonical Allele Identifier: CA3202139

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753316C>A , CM000667.2:g.13753316C>A	GRCh38
NC_000005.9:g.13753425C>A , CM000667.1:g.13753425C>A	GRCh37
NC_000005.8:g.13806425C>A	NCBI36
NG_013081.1:g.196165G>T
NG_013081.2:g.196165G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10789G>T MANE Select	NP_001360.1:p.Ala3597Ser
ENST00000265104.5:c.10789G>T MANE Select	ENSP00000265104.4:p.Ala3597Ser
NM_001369.2:c.10789G>T	NP_001360.1:p.Ala3597Ser
ENST00000265104.4:c.10789G>T	ENSP00000265104.4:p.Ala3597Ser
ENST00000681290.1:c.10744G>T	ENSP00000505288.1:p.Ala3582Ser
XM_005248262.2:c.10744G>T	XP_005248319.1:p.Ala3582Ser
XM_005248262.3:c.10897G>T	XP_005248319.2:p.Ala3633Ser
XM_017009177.1:c.10897G>T	XP_016864666.1:p.Ala3633Ser
XM_017009178.1:c.9802G>T	XP_016864667.1:p.Ala3268Ser
XM_017009179.2:c.9802G>T	XP_016864668.1:p.Ala3268Ser
XM_017009180.1:c.10897G>T	XP_016864669.1:p.Ala3633Ser
XM_017009181.1:c.10897G>T	XP_016864670.1:p.Ala3633Ser
XM_017009182.1:c.10897G>T	XP_016864671.1:p.Ala3633Ser
XM_017009185.1:c.5986G>T	XP_016864674.1:p.Ala1996Ser
XM_017009186.1:c.5539G>T	XP_016864675.1:p.Ala1847Ser
XM_017009188.1:c.4876G>T	XP_016864677.1:p.Ala1626Ser
XM_024454388.1:c.9802G>T	XP_024310156.1:p.Ala3268Ser
XM_024454389.1:c.9391G>T	XP_024310157.1:p.Ala3131Ser