Canonical Allele Identifier: CA113926956

Gene: DNAH5

Linked Data

• dbSNP Id: rs913734375
• gnomAD v2: 5-13735330-G-T
• gnomAD v3: 5-13735221-G-T
• gnomAD v4: 5-13735221-G-T
• MyVariant Identifiers: chr5:g.13735330G>T (hg19) ; chr5:g.13735221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735221G>T , CM000667.2:g.13735221G>T	GRCh38
NC_000005.9:g.13735330G>T , CM000667.1:g.13735330G>T	GRCh37
NC_000005.8:g.13788330G>T	NCBI36
NG_013081.1:g.214260C>A
NG_013081.2:g.214260C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11671C>A MANE Select	ENSP00000265104.4:p.His3891Asn
ENST00000681290.1:c.11626C>A	ENSP00000505288.1:p.His3876Asn
ENST00000265104.4:c.11671C>A	ENSP00000265104.4:p.His3891Asn
NM_001369.2:c.11671C>A	NP_001360.1:p.His3891Asn
XM_005248262.2:c.11626C>A	XP_005248319.1:p.His3876Asn
XM_005248262.3:c.11779C>A	XP_005248319.2:p.His3927Asn
XM_017009177.1:c.11779C>A	XP_016864666.1:p.His3927Asn
XM_017009178.1:c.10684C>A	XP_016864667.1:p.His3562Asn
XM_017009179.2:c.10684C>A	XP_016864668.1:p.His3562Asn
XM_017009180.1:c.11779C>A	XP_016864669.1:p.His3927Asn
XM_017009181.1:c.11779C>A	XP_016864670.1:p.His3927Asn
XM_017009185.1:c.6868C>A	XP_016864674.1:p.His2290Asn
XM_017009186.1:c.6421C>A	XP_016864675.1:p.His2141Asn
XM_017009188.1:c.5758C>A	XP_016864677.1:p.His1920Asn
XM_024454388.1:c.10684C>A	XP_024310156.1:p.His3562Asn
XM_024454389.1:c.10273C>A	XP_024310157.1:p.His3425Asn
NM_001369.3:c.11671C>A MANE Select	NP_001360.1:p.His3891Asn