Canonical Allele Identifier: CA359190280

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752346G>T (hg19) ; chr5:g.13752237G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752237G>T , CM000667.2:g.13752237G>T	GRCh38
NC_000005.9:g.13752346G>T , CM000667.1:g.13752346G>T	GRCh37
NC_000005.8:g.13805346G>T	NCBI36
NG_013081.1:g.197244C>A
NG_013081.2:g.197244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10925C>A MANE Select	ENSP00000265104.4:p.Ser3642Tyr
ENST00000681290.1:c.10880C>A	ENSP00000505288.1:p.Ser3627Tyr
ENST00000265104.4:c.10925C>A	ENSP00000265104.4:p.Ser3642Tyr
NM_001369.2:c.10925C>A	NP_001360.1:p.Ser3642Tyr
XM_005248262.2:c.10880C>A	XP_005248319.1:p.Ser3627Tyr
XM_005248262.3:c.11033C>A	XP_005248319.2:p.Ser3678Tyr
XM_017009177.1:c.11033C>A	XP_016864666.1:p.Ser3678Tyr
XM_017009178.1:c.9938C>A	XP_016864667.1:p.Ser3313Tyr
XM_017009179.2:c.9938C>A	XP_016864668.1:p.Ser3313Tyr
XM_017009180.1:c.11033C>A	XP_016864669.1:p.Ser3678Tyr
XM_017009181.1:c.11033C>A	XP_016864670.1:p.Ser3678Tyr
XM_017009182.1:c.11033C>A	XP_016864671.1:p.Ser3678Tyr
XM_017009185.1:c.6122C>A	XP_016864674.1:p.Ser2041Tyr
XM_017009186.1:c.5675C>A	XP_016864675.1:p.Ser1892Tyr
XM_017009188.1:c.5012C>A	XP_016864677.1:p.Ser1671Tyr
XM_024454388.1:c.9938C>A	XP_024310156.1:p.Ser3313Tyr
XM_024454389.1:c.9527C>A	XP_024310157.1:p.Ser3176Tyr
NM_001369.3:c.10925C>A MANE Select	NP_001360.1:p.Ser3642Tyr