Canonical Allele Identifier: CA359188611

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692048-C-T
• MyVariant Identifiers: chr5:g.13692157C>T (hg19) ; chr5:g.13692048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692048C>T , CM000667.2:g.13692048C>T	GRCh38
NC_000005.9:g.13692157C>T , CM000667.1:g.13692157C>T	GRCh37
NC_000005.8:g.13745157C>T	NCBI36
NG_013081.1:g.257433G>A
NG_013081.2:g.257433G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1144G>A
ENST00000265104.5:c.13811G>A MANE Select	ENSP00000265104.4:p.Arg4604Lys
ENST00000681290.1:c.13766G>A	ENSP00000505288.1:p.Arg4589Lys
ENST00000265104.4:c.13811G>A	ENSP00000265104.4:p.Arg4604Lys
NM_001369.2:c.13811G>A	NP_001360.1:p.Arg4604Lys
XM_005248262.2:c.13766G>A	XP_005248319.1:p.Arg4589Lys
XM_005248262.3:c.13919G>A	XP_005248319.2:p.Arg4640Lys
XM_017009177.1:c.13499G>A	XP_016864666.1:p.Arg4500Lys
XM_017009178.1:c.12824G>A	XP_016864667.1:p.Arg4275Lys
XM_017009179.2:c.12824G>A	XP_016864668.1:p.Arg4275Lys
XM_017009185.1:c.9008G>A	XP_016864674.1:p.Arg3003Lys
XM_017009186.1:c.8561G>A	XP_016864675.1:p.Arg2854Lys
XM_017009188.1:c.7898G>A	XP_016864677.1:p.Arg2633Lys
XM_024454388.1:c.12824G>A	XP_024310156.1:p.Arg4275Lys
XM_024454389.1:c.12413G>A	XP_024310157.1:p.Arg4138Lys
NM_001369.3:c.13811G>A MANE Select	NP_001360.1:p.Arg4604Lys