Canonical Allele Identifier: CA359204196

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13770885T>A (hg19) ; chr5:g.13770776T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770776T>A , CM000667.2:g.13770776T>A	GRCh38
NC_000005.9:g.13770885T>A , CM000667.1:g.13770885T>A	GRCh37
NC_000005.8:g.13823885T>A	NCBI36
NG_013081.1:g.178705A>T
NG_013081.2:g.178705A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9578A>T MANE Select	ENSP00000265104.4:p.His3193Leu
ENST00000681290.1:c.9533A>T	ENSP00000505288.1:p.His3178Leu
ENST00000265104.4:c.9578A>T	ENSP00000265104.4:p.His3193Leu
ENST00000504001.3:n.290A>T
NM_001369.2:c.9578A>T	NP_001360.1:p.His3193Leu
XM_005248262.2:c.9533A>T	XP_005248319.1:p.His3178Leu
XM_005248262.3:c.9686A>T	XP_005248319.2:p.His3229Leu
XM_017009177.1:c.9686A>T	XP_016864666.1:p.His3229Leu
XM_017009178.1:c.8591A>T	XP_016864667.1:p.His2864Leu
XM_017009179.2:c.8591A>T	XP_016864668.1:p.His2864Leu
XM_017009180.1:c.9686A>T	XP_016864669.1:p.His3229Leu
XM_017009181.1:c.9686A>T	XP_016864670.1:p.His3229Leu
XM_017009182.1:c.9686A>T	XP_016864671.1:p.His3229Leu
XM_017009183.1:c.9686A>T	XP_016864672.1:p.His3229Leu
XM_017009185.1:c.4775A>T	XP_016864674.1:p.His1592Leu
XM_017009186.1:c.4328A>T	XP_016864675.1:p.His1443Leu
XM_017009188.1:c.3665A>T	XP_016864677.1:p.His1222Leu
XM_024454388.1:c.8591A>T	XP_024310156.1:p.His2864Leu
XM_024454389.1:c.8180A>T	XP_024310157.1:p.His2727Leu
NM_001369.3:c.9578A>T MANE Select	NP_001360.1:p.His3193Leu