Canonical Allele Identifier: CA359224736

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735975T>A (hg19) ; chr5:g.13735866T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735866T>A , CM000667.2:g.13735866T>A	GRCh38
NC_000005.9:g.13735975T>A , CM000667.1:g.13735975T>A	GRCh37
NC_000005.8:g.13788975T>A	NCBI36
NG_013081.1:g.213615A>T
NG_013081.2:g.213615A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11522A>T MANE Select	ENSP00000265104.4:p.Gln3841Leu
ENST00000681290.1:c.11477A>T	ENSP00000505288.1:p.Gln3826Leu
ENST00000265104.4:c.11522A>T	ENSP00000265104.4:p.Gln3841Leu
NM_001369.2:c.11522A>T	NP_001360.1:p.Gln3841Leu
XM_005248262.2:c.11477A>T	XP_005248319.1:p.Gln3826Leu
XM_005248262.3:c.11630A>T	XP_005248319.2:p.Gln3877Leu
XM_017009177.1:c.11630A>T	XP_016864666.1:p.Gln3877Leu
XM_017009178.1:c.10535A>T	XP_016864667.1:p.Gln3512Leu
XM_017009179.2:c.10535A>T	XP_016864668.1:p.Gln3512Leu
XM_017009180.1:c.11630A>T	XP_016864669.1:p.Gln3877Leu
XM_017009181.1:c.11630A>T	XP_016864670.1:p.Gln3877Leu
XM_017009182.1:c.11386A>T	XP_016864671.1:p.Arg3796Ter
XM_017009185.1:c.6719A>T	XP_016864674.1:p.Gln2240Leu
XM_017009186.1:c.6272A>T	XP_016864675.1:p.Gln2091Leu
XM_017009188.1:c.5609A>T	XP_016864677.1:p.Gln1870Leu
XM_024454388.1:c.10535A>T	XP_024310156.1:p.Gln3512Leu
XM_024454389.1:c.10124A>T	XP_024310157.1:p.Gln3375Leu
NM_001369.3:c.11522A>T MANE Select	NP_001360.1:p.Gln3841Leu