Canonical Allele Identifier: CA3202554

Gene: DNAH5

Linked Data

• dbSNP Id: rs377482522
• ExAC: 5:13771081 G / A
• gnomAD v2: 5-13771081-G-A
• gnomAD v3: 5-13770972-G-A
• gnomAD v4: 5-13770972-G-A
• MyVariant Identifiers: chr5:g.13771081G>A (hg19) ; chr5:g.13770972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770972G>A , CM000667.2:g.13770972G>A	GRCh38
NC_000005.9:g.13771081G>A , CM000667.1:g.13771081G>A	GRCh37
NC_000005.8:g.13824081G>A	NCBI36
NG_013081.1:g.178509C>T
NG_013081.2:g.178509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9382C>T MANE Select	ENSP00000265104.4:p.His3128Tyr
ENST00000681290.1:c.9337C>T	ENSP00000505288.1:p.His3113Tyr
ENST00000265104.4:c.9382C>T	ENSP00000265104.4:p.His3128Tyr
ENST00000504001.3:n.94C>T
NM_001369.2:c.9382C>T	NP_001360.1:p.His3128Tyr
XM_005248262.2:c.9337C>T	XP_005248319.1:p.His3113Tyr
XM_005248262.3:c.9490C>T	XP_005248319.2:p.His3164Tyr
XM_017009177.1:c.9490C>T	XP_016864666.1:p.His3164Tyr
XM_017009178.1:c.8395C>T	XP_016864667.1:p.His2799Tyr
XM_017009179.2:c.8395C>T	XP_016864668.1:p.His2799Tyr
XM_017009180.1:c.9490C>T	XP_016864669.1:p.His3164Tyr
XM_017009181.1:c.9490C>T	XP_016864670.1:p.His3164Tyr
XM_017009182.1:c.9490C>T	XP_016864671.1:p.His3164Tyr
XM_017009183.1:c.9490C>T	XP_016864672.1:p.His3164Tyr
XM_017009185.1:c.4579C>T	XP_016864674.1:p.His1527Tyr
XM_017009186.1:c.4132C>T	XP_016864675.1:p.His1378Tyr
XM_017009188.1:c.3469C>T	XP_016864677.1:p.His1157Tyr
XM_024454388.1:c.8395C>T	XP_024310156.1:p.His2799Tyr
XM_024454389.1:c.7984C>T	XP_024310157.1:p.His2662Tyr
NM_001369.3:c.9382C>T MANE Select	NP_001360.1:p.His3128Tyr