Canonical Allele Identifier: CA359190325

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752353T>A (hg19) ; chr5:g.13752244T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752244T>A , CM000667.2:g.13752244T>A	GRCh38
NC_000005.9:g.13752353T>A , CM000667.1:g.13752353T>A	GRCh37
NC_000005.8:g.13805353T>A	NCBI36
NG_013081.1:g.197237A>T
NG_013081.2:g.197237A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10918A>T MANE Select	ENSP00000265104.4:p.Ser3640Cys
ENST00000681290.1:c.10873A>T	ENSP00000505288.1:p.Ser3625Cys
ENST00000265104.4:c.10918A>T	ENSP00000265104.4:p.Ser3640Cys
NM_001369.2:c.10918A>T	NP_001360.1:p.Ser3640Cys
XM_005248262.2:c.10873A>T	XP_005248319.1:p.Ser3625Cys
XM_005248262.3:c.11026A>T	XP_005248319.2:p.Ser3676Cys
XM_017009177.1:c.11026A>T	XP_016864666.1:p.Ser3676Cys
XM_017009178.1:c.9931A>T	XP_016864667.1:p.Ser3311Cys
XM_017009179.2:c.9931A>T	XP_016864668.1:p.Ser3311Cys
XM_017009180.1:c.11026A>T	XP_016864669.1:p.Ser3676Cys
XM_017009181.1:c.11026A>T	XP_016864670.1:p.Ser3676Cys
XM_017009182.1:c.11026A>T	XP_016864671.1:p.Ser3676Cys
XM_017009185.1:c.6115A>T	XP_016864674.1:p.Ser2039Cys
XM_017009186.1:c.5668A>T	XP_016864675.1:p.Ser1890Cys
XM_017009188.1:c.5005A>T	XP_016864677.1:p.Ser1669Cys
XM_024454388.1:c.9931A>T	XP_024310156.1:p.Ser3311Cys
XM_024454389.1:c.9520A>T	XP_024310157.1:p.Ser3174Cys
NM_001369.3:c.10918A>T MANE Select	NP_001360.1:p.Ser3640Cys