Canonical Allele Identifier: CA359191370

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753454G>A (hg19) ; chr5:g.13753345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753345G>A , CM000667.2:g.13753345G>A	GRCh38
NC_000005.9:g.13753454G>A , CM000667.1:g.13753454G>A	GRCh37
NC_000005.8:g.13806454G>A	NCBI36
NG_013081.1:g.196136C>T
NG_013081.2:g.196136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10760C>T MANE Select	ENSP00000265104.4:p.Ser3587Phe
ENST00000681290.1:c.10715C>T	ENSP00000505288.1:p.Ser3572Phe
ENST00000265104.4:c.10760C>T	ENSP00000265104.4:p.Ser3587Phe
NM_001369.2:c.10760C>T	NP_001360.1:p.Ser3587Phe
XM_005248262.2:c.10715C>T	XP_005248319.1:p.Ser3572Phe
XM_005248262.3:c.10868C>T	XP_005248319.2:p.Ser3623Phe
XM_017009177.1:c.10868C>T	XP_016864666.1:p.Ser3623Phe
XM_017009178.1:c.9773C>T	XP_016864667.1:p.Ser3258Phe
XM_017009179.2:c.9773C>T	XP_016864668.1:p.Ser3258Phe
XM_017009180.1:c.10868C>T	XP_016864669.1:p.Ser3623Phe
XM_017009181.1:c.10868C>T	XP_016864670.1:p.Ser3623Phe
XM_017009182.1:c.10868C>T	XP_016864671.1:p.Ser3623Phe
XM_017009185.1:c.5957C>T	XP_016864674.1:p.Ser1986Phe
XM_017009186.1:c.5510C>T	XP_016864675.1:p.Ser1837Phe
XM_017009188.1:c.4847C>T	XP_016864677.1:p.Ser1616Phe
XM_024454388.1:c.9773C>T	XP_024310156.1:p.Ser3258Phe
XM_024454389.1:c.9362C>T	XP_024310157.1:p.Ser3121Phe
NM_001369.3:c.10760C>T MANE Select	NP_001360.1:p.Ser3587Phe