Canonical Allele Identifier: CA359207416

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717528A>T (hg19) ; chr5:g.13717419A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717419A>T , CM000667.2:g.13717419A>T	GRCh38
NC_000005.9:g.13717528A>T , CM000667.1:g.13717528A>T	GRCh37
NC_000005.8:g.13770528A>T	NCBI36
NG_013081.1:g.232062T>A
NG_013081.2:g.232062T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12601T>A MANE Select	ENSP00000265104.4:p.Phe4201Ile
ENST00000681290.1:c.12556T>A	ENSP00000505288.1:p.Phe4186Ile
ENST00000265104.4:c.12601T>A	ENSP00000265104.4:p.Phe4201Ile
NM_001369.2:c.12601T>A	NP_001360.1:p.Phe4201Ile
XM_005248262.2:c.12556T>A	XP_005248319.1:p.Phe4186Ile
XM_005248262.3:c.12709T>A	XP_005248319.2:p.Phe4237Ile
XM_017009177.1:c.12709T>A	XP_016864666.1:p.Phe4237Ile
XM_017009178.1:c.11614T>A	XP_016864667.1:p.Phe3872Ile
XM_017009179.2:c.11614T>A	XP_016864668.1:p.Phe3872Ile
XM_017009180.1:c.12709T>A	XP_016864669.1:p.Phe4237Ile
XM_017009185.1:c.7798T>A	XP_016864674.1:p.Phe2600Ile
XM_017009186.1:c.7351T>A	XP_016864675.1:p.Phe2451Ile
XM_017009188.1:c.6688T>A	XP_016864677.1:p.Phe2230Ile
XM_024454388.1:c.11614T>A	XP_024310156.1:p.Phe3872Ile
XM_024454389.1:c.11203T>A	XP_024310157.1:p.Phe3735Ile
NM_001369.3:c.12601T>A MANE Select	NP_001360.1:p.Phe4201Ile