Canonical Allele Identifier: CA359213999

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454782
• ClinVar RCV Id: RCV000540141 ; RCV002481749
• dbSNP Id: rs1554074458
• gnomAD v4: 5-13844889-G-A
• MyVariant Identifiers: chr5:g.13844998G>A (hg19) ; chr5:g.13844889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844889G>A , CM000667.2:g.13844889G>A	GRCh38
NC_000005.9:g.13844998G>A , CM000667.1:g.13844998G>A	GRCh37
NC_000005.8:g.13897998G>A	NCBI36
NG_013081.1:g.104592C>T
NG_013081.2:g.104592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5219C>T MANE Select	ENSP00000265104.4:p.Ala1740Val
ENST00000681290.1:c.5174C>T	ENSP00000505288.1:p.Ala1725Val
ENST00000265104.4:c.5219C>T	ENSP00000265104.4:p.Ala1740Val
NM_001369.2:c.5219C>T	NP_001360.1:p.Ala1740Val
XM_005248262.2:c.5174C>T	XP_005248319.1:p.Ala1725Val
XM_011513990.1:c.5219C>T	XP_011512292.1:p.Ala1740Val
XR_925598.1:n.5426C>T
XM_005248262.3:c.5327C>T	XP_005248319.2:p.Ala1776Val
XM_017009177.1:c.5327C>T	XP_016864666.1:p.Ala1776Val
XM_017009178.1:c.4232C>T	XP_016864667.1:p.Ala1411Val
XM_017009179.2:c.4232C>T	XP_016864668.1:p.Ala1411Val
XM_017009180.1:c.5327C>T	XP_016864669.1:p.Ala1776Val
XM_017009181.1:c.5327C>T	XP_016864670.1:p.Ala1776Val
XM_017009182.1:c.5327C>T	XP_016864671.1:p.Ala1776Val
XM_017009183.1:c.5327C>T	XP_016864672.1:p.Ala1776Val
XM_017009184.1:c.5327C>T	XP_016864673.1:p.Ala1776Val
XM_017009185.1:c.416C>T	XP_016864674.1:p.Ala139Val
XM_017009186.1:c.22-2985C>T	XP_016864675.1:n.22-2985C>T
XM_017009187.1:c.5327C>T	XP_016864676.1:p.Ala1776Val
XM_024454388.1:c.4232C>T	XP_024310156.1:p.Ala1411Val
XM_024454389.1:c.3821C>T	XP_024310157.1:p.Ala1274Val
XR_001742034.1:n.5344C>T
XR_001742035.1:n.5344C>T
NM_001369.3:c.5219C>T MANE Select	NP_001360.1:p.Ala1740Val