Canonical Allele Identifier: CA359190441

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752369T>A (hg19) ; chr5:g.13752260T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752260T>A , CM000667.2:g.13752260T>A	GRCh38
NC_000005.9:g.13752369T>A , CM000667.1:g.13752369T>A	GRCh37
NC_000005.8:g.13805369T>A	NCBI36
NG_013081.1:g.197221A>T
NG_013081.2:g.197221A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10902A>T MANE Select	ENSP00000265104.4:p.Arg3634Ser
ENST00000681290.1:c.10857A>T	ENSP00000505288.1:p.Arg3619Ser
ENST00000265104.4:c.10902A>T	ENSP00000265104.4:p.Arg3634Ser
NM_001369.2:c.10902A>T	NP_001360.1:p.Arg3634Ser
XM_005248262.2:c.10857A>T	XP_005248319.1:p.Arg3619Ser
XM_005248262.3:c.11010A>T	XP_005248319.2:p.Arg3670Ser
XM_017009177.1:c.11010A>T	XP_016864666.1:p.Arg3670Ser
XM_017009178.1:c.9915A>T	XP_016864667.1:p.Arg3305Ser
XM_017009179.2:c.9915A>T	XP_016864668.1:p.Arg3305Ser
XM_017009180.1:c.11010A>T	XP_016864669.1:p.Arg3670Ser
XM_017009181.1:c.11010A>T	XP_016864670.1:p.Arg3670Ser
XM_017009182.1:c.11010A>T	XP_016864671.1:p.Arg3670Ser
XM_017009185.1:c.6099A>T	XP_016864674.1:p.Arg2033Ser
XM_017009186.1:c.5652A>T	XP_016864675.1:p.Arg1884Ser
XM_017009188.1:c.4989A>T	XP_016864677.1:p.Arg1663Ser
XM_024454388.1:c.9915A>T	XP_024310156.1:p.Arg3305Ser
XM_024454389.1:c.9504A>T	XP_024310157.1:p.Arg3168Ser
NM_001369.3:c.10902A>T MANE Select	NP_001360.1:p.Arg3634Ser