Canonical Allele Identifier: CA359190453

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13752261-C-T
• MyVariant Identifiers: chr5:g.13752370C>T (hg19) ; chr5:g.13752261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752261C>T , CM000667.2:g.13752261C>T	GRCh38
NC_000005.9:g.13752370C>T , CM000667.1:g.13752370C>T	GRCh37
NC_000005.8:g.13805370C>T	NCBI36
NG_013081.1:g.197220G>A
NG_013081.2:g.197220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10901G>A MANE Select	ENSP00000265104.4:p.Arg3634Lys
ENST00000681290.1:c.10856G>A	ENSP00000505288.1:p.Arg3619Lys
ENST00000265104.4:c.10901G>A	ENSP00000265104.4:p.Arg3634Lys
NM_001369.2:c.10901G>A	NP_001360.1:p.Arg3634Lys
XM_005248262.2:c.10856G>A	XP_005248319.1:p.Arg3619Lys
XM_005248262.3:c.11009G>A	XP_005248319.2:p.Arg3670Lys
XM_017009177.1:c.11009G>A	XP_016864666.1:p.Arg3670Lys
XM_017009178.1:c.9914G>A	XP_016864667.1:p.Arg3305Lys
XM_017009179.2:c.9914G>A	XP_016864668.1:p.Arg3305Lys
XM_017009180.1:c.11009G>A	XP_016864669.1:p.Arg3670Lys
XM_017009181.1:c.11009G>A	XP_016864670.1:p.Arg3670Lys
XM_017009182.1:c.11009G>A	XP_016864671.1:p.Arg3670Lys
XM_017009185.1:c.6098G>A	XP_016864674.1:p.Arg2033Lys
XM_017009186.1:c.5651G>A	XP_016864675.1:p.Arg1884Lys
XM_017009188.1:c.4988G>A	XP_016864677.1:p.Arg1663Lys
XM_024454388.1:c.9914G>A	XP_024310156.1:p.Arg3305Lys
XM_024454389.1:c.9503G>A	XP_024310157.1:p.Arg3168Lys
NM_001369.3:c.10901G>A MANE Select	NP_001360.1:p.Arg3634Lys