Canonical Allele Identifier: CA359203915

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13900512T>G (hg19) ; chr5:g.13900403T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13900403T>G , CM000667.2:g.13900403T>G	GRCh38
NC_000005.9:g.13900512T>G , CM000667.1:g.13900512T>G	GRCh37
NC_000005.8:g.13953512T>G	NCBI36
NG_013081.1:g.49078A>C
NG_013081.2:g.49078A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2062A>C MANE Select	ENSP00000265104.4:p.Ile688Leu
ENST00000681290.1:c.2017A>C	ENSP00000505288.1:p.Ile673Leu
ENST00000265104.4:c.2062A>C	ENSP00000265104.4:p.Ile688Leu
NM_001369.2:c.2062A>C	NP_001360.1:p.Ile688Leu
XM_005248262.2:c.2017A>C	XP_005248319.1:p.Ile673Leu
XM_011513990.1:c.2062A>C	XP_011512292.1:p.Ile688Leu
XR_925598.1:n.2269A>C
XM_005248262.3:c.2170A>C	XP_005248319.2:p.Ile724Leu
XM_017009177.1:c.2170A>C	XP_016864666.1:p.Ile724Leu
XM_017009178.1:c.1075A>C	XP_016864667.1:p.Ile359Leu
XM_017009179.2:c.1075A>C	XP_016864668.1:p.Ile359Leu
XM_017009180.1:c.2170A>C	XP_016864669.1:p.Ile724Leu
XM_017009181.1:c.2170A>C	XP_016864670.1:p.Ile724Leu
XM_017009182.1:c.2170A>C	XP_016864671.1:p.Ile724Leu
XM_017009183.1:c.2170A>C	XP_016864672.1:p.Ile724Leu
XM_017009184.1:c.2170A>C	XP_016864673.1:p.Ile724Leu
XM_017009187.1:c.2170A>C	XP_016864676.1:p.Ile724Leu
XM_024454388.1:c.1075A>C	XP_024310156.1:p.Ile359Leu
XM_024454389.1:c.664A>C	XP_024310157.1:p.Ile222Leu
XR_001742034.1:n.2187A>C
XR_001742035.1:n.2187A>C
NM_001369.3:c.2062A>C MANE Select	NP_001360.1:p.Ile688Leu